46, XX Disorders of Sex Development: Congenital conditions in individuals with a female karyotype, in which the development of the gonadal or anatomical sex is atypical.46, XY Disorders of Sex Development: Congenital conditions in individuals with a male karyotype, in which the development of the gonadal or anatomical sex is atypical.Disorders of Sex Development: In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of GONADAL HORMONES in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included.Sexual Development: The processes of anatomical and physiological changes related to sexual or reproductive functions during the life span of a human or an animal, from FERTILIZATION to DEATH. These include SEX DETERMINATION PROCESSES; SEX DIFFERENTIATION; SEXUAL MATURATION; and changes during AGING.Gonadal Dysgenesis, 46,XY: Defects in the SEX DETERMINATION PROCESS in 46, XY individuals that result in abnormal gonadal development and deficiencies in TESTOSTERONE and subsequently ANTIMULLERIAN HORMONE or other factors required for normal male sex development. This leads to the development of female phenotypes (male to female sex reversal), normal to tall stature, and bilateral streak or dysgenic gonads which are susceptible to GONADAL TISSUE NEOPLASMS. An XY gonadal dysgenesis is associated with structural abnormalities on the Y CHROMOSOME, a mutation in the GENE, SRY, or a mutation in other autosomal genes that are involved in sex determination.Gonadal Dysgenesis, 46,XX: The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus was mapped to chromosome 2. Mutation in the gene for the FSH receptor (RECEPTORS, FSH) was detected. Sporadic XX gonadal dysgenesis is heterogeneous and has been associated with trisomy-13 and trisomy-18. These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LUTEINIZING HORMONE and FSH concentration.Sex Reassignment Procedures: Clinical treatments used to change the physiological sexual characteristics of an individual.46, XX Testicular Disorders of Sex Development: Congenital conditions in individuals in which male GONADS develop in a genetic female (female to male sex reversal).Virilism: Development of male secondary SEX CHARACTERISTICS in the FEMALE. It is due to the effects of androgenic metabolites of precursors from endogenous or exogenous sources, such as ADRENAL GLANDS or therapeutic drugs.Gonadoblastoma: A complex neoplasm composed of a mixture of gonadal elements, such as large primordial GERM CELLS, immature SERTOLI CELLS or GRANULOSA CELLS of the sex cord, and gonadal stromal cells. Gonadoblastomas are most often associated with gonadal dysgenesis, 46, XY.Steroidogenic Factor 1: A transcription factor and member of the nuclear receptor family NR5 that is expressed throughout the adrenal and reproductive axes during development. It plays an important role in sexual differentiation, formation of primary steroidogenic tissues, and their functions in post-natal and adult life. It regulates the expression of key steroidogenic enzymes.Ovotesticular Disorders of Sex Development: Conditions of sexual ambiguity in which the individual possesses gonadal tissues of both sexes, tissues from the OVARY and the TESTIS. There can be a testis on one side and an ovary on the other (lateral), or there may be combined ovarian and testicular tissue (ovotestes) on each side (bilateral). The karyotype may be 46,XX; 46,XY; or a mosaic of 46,XX/46,XY. These disorders have historically been called true hermaphroditism.Antley-Bixler Syndrome Phenotype: An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2).Androgen-Insensitivity Syndrome: A disorder of sexual development transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (RECEPTORS, ANDROGEN) gene. Severity of the defect in receptor quantity or quality correlates with their phenotypes. In these genetic males, the phenotypic spectrum ranges from those with normal female external genitalia, through those with genital ambiguity as in Reifenstein Syndrome, to that of a normal male with INFERTILITY.Sex Determination Analysis: Validation of the SEX of an individual by inspection of the GONADS and/or by genetic tests.Sex-Determining Region Y Protein: A transcription factor that plays an essential role in the development of the TESTES. It is encoded by a gene on the Y chromosome and contains a specific HMG-BOX DOMAIN that is found within members of the SOX family of transcription factors.Psychosexual Development: The stages of development of the psychological aspects of sexuality from birth to adulthood; i.e., oral, anal, genital, and latent periods.Genitalia: The external and internal organs related to reproduction.Sex Chromosome Disorders of Sex Development: Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including MONOSOMY; TRISOMY; and MOSAICISM.Adrenal Hyperplasia, Congenital: A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. Defects in STEROID 21-HYDROXYLASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES); TESTOSTERONE 5-ALPHA-REDUCTASE; or steroidogenic acute regulatory protein; among others, underlie these disorders.Steroid 17-alpha-Hydroxylase: A microsomal cytochrome P450 enzyme that catalyzes the 17-alpha-hydroxylation of progesterone or pregnenolone and subsequent cleavage of the residual two carbons at C17 in the presence of molecular oxygen and NADPH-FERRIHEMOPROTEIN REDUCTASE. This enzyme, encoded by CYP17 gene, generates precursors for glucocorticoid, androgen, and estrogen synthesis. Defects in CYP17 gene cause congenital adrenal hyperplasia (ADRENAL HYPERPLASIA, CONGENITAL) and abnormal sexual differentiation.Testis: The male gonad containing two functional parts: the SEMINIFEROUS TUBULES for the production and transport of male germ cells (SPERMATOGENESIS) and the interstitial compartment containing LEYDIG CELLS that produce ANDROGENS.Bipolar Disorder: A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence.Karyotyping: Mapping of the KARYOTYPE of a cell.Sex Factors: Maleness or femaleness as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or effect of a circumstance. It is used with human or animal concepts but should be differentiated from SEX CHARACTERISTICS, anatomical or physiological manifestations of sex, and from SEX DISTRIBUTION, the number of males and females in given circumstances.Mental Disorders: Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function.Sex Characteristics: Those characteristics that distinguish one SEX from the other. The primary sex characteristics are the OVARIES and TESTES and their related hormones. Secondary sex characteristics are those which are masculine or feminine but not directly related to reproduction.Anxiety Disorders: Persistent and disabling ANXIETY.Mood Disorders: Those disorders that have a disturbance in mood as their predominant feature.Testosterone: A potent androgenic steroid and major product secreted by the LEYDIG CELLS of the TESTIS. Its production is stimulated by LUTEINIZING HORMONE from the PITUITARY GLAND. In turn, testosterone exerts feedback control of the pituitary LH and FSH secretion. Depending on the tissues, testosterone can be further converted to DIHYDROTESTOSTERONE or ESTRADIOL.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Infant, Newborn: An infant during the first month after birth.
(1/31) Five mutations of mitochondrial DNA polymerase-gamma (POLG) are not a prevalent etiology for spontaneous 46,XX primary ovarian insufficiency.

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(2/31) High incidence of recurrent copy number variants in patients with isolated and syndromic Mullerian aplasia.

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(3/31) Cortisone-reductase deficiency associated with heterozygous mutations in 11beta-hydroxysteroid dehydrogenase type 1.

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(4/31) Utero-vaginal aplasia (Mayer-Rokitansky-Kuster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci.

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(5/31) The aetiology behind torticollis and variable spine defects in patients with Mullerian duct/renal aplasia-cervicothoracic somite dysplasia syndrome: 3D CT scan analysis.

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(6/31) A combination of transcriptome and methylation analyses reveals embryologically-relevant candidate genes in MRKH patients.

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(7/31) Etiological classification and clinical assessment of children and adolescents with disorders of sex development.

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(8/31) Evaluation of SHOX copy number variations in patients with Mullerian aplasia.

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*  Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
The psychosexual development of these girls and women has been analyzed as evidence of the role of androgens in human sex- ... However, the dilemmas surrounding sex assignment of the most severely virilized XX infants have helped shape our understanding ... Inborn errors of steroid metabolism Congenital adrenal hyperplasia Adrenal insufficiency Disorders of sexual development ... Most developed gender identities congruent with their sex of rearing. In a few cases of male rearing, a sex reassignment was ...
*  WNT4
XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis OMIM entries on 46,XY Disorder of Sex Development and 46, ... This disorder is therefore distinct from classic Mayer-Rokitansky-Kuster-Hauser syndrome. A disruption of WNT4 synthesis in XX ... It promotes female sex development and represses male sex development. Loss of function can have serious consequences, such as ... The absence of WNT4 is required for male sex development. FGF signaling suppresses WNT4, acting in a feed forward loop ...
*  Mild androgen insensitivity syndrome
XY disorder of sex development". J. Clin. Endocrinol. Metab. 95 (4): 1876-88. doi:10.1210/jc.2009-2146. PMID 20150575. Lumbroso ... but does not affect genital differentiation or development. Female genital and sexual development is not significantly affected ... Hughes IA, Houk C, Ahmed SF, Lee PA (July 2006). "Consensus statement on management of intersex disorders". Arch. Dis. Child. ... The degree of impairment is sufficient to impair spermatogenesis and / or the development of secondary sexual characteristics ...
*  Partial androgen insensitivity syndrome
Hughes IA (February 2008). "Disorders of sex development: a new definition and classification". Best Pract. Res. Clin. ... The Court ruled in the case of XX, an 8-year old with ambiguous genitalia, androgen insensitivity and XY chromosomes, raised as ... the interaction of hormonal and social influences on the development of behavioral sex differences in rhesus monkeys". Horm ... Psychosexual development is influenced by many factors, including the timing, amount, and type of androgen exposure, receptor ...
*  Lipoid congenital adrenal hyperplasia
Sex steroid production may be sufficient to allow for normal sexual development as well and even fertility. These nonclassic ... Inborn errors of steroid metabolism Congenital adrenal hyperplasia Adrenal insufficiency Disorders of sexual development ... XX females with lipoid CAH may need estrogen replacement at or after puberty. Active intervention has been used to preserve the ... All forms of CAH involve excessive or defective production of sex steroids and can prevent or impair development of primary or ...
*  46,XX testicular disorders of sex development
XX testicular disorder. XX male syndrome Disorders of sex development Intersex medical interventions RESERVED, INSERM US14 -- ... XX testicular disorder of sex development. The cause of the disorder in these individuals is often unknown, although changes ... XX testicular disorders of sex development may also be named 46,XX sex reversal, nonsyndromic 46,XX testicular DSD, XX male ... XX testicular disorder of sex development. About 20 percent of those with 46 XX testicular disorder of sex development do not ...
*  Allosome
XX testicular disorder of sex development, also called XX male syndrome, is a condition in which individuals with two X ... XX testicular disorder of sex development, the condition results from an abnormal exchange of genetic material between ... XX testicular disorder of sex development - Genetics Home Reference. ... Genes that are carried by either sex chromosome are said to be sex linked. Sex-linked diseases are passed down through families ...
*  Foekje Dillema
Dillema was probably an 46XX/46XY woman also known as ovotesticular disorder of sex development (DSD) or true hermaphroditism. ... Her brothers and sisters never suspected that she was not a standard XX woman, having seen her so many times in the bathtub. ... The forensic report speculated that Dillema developed from a zygote with an XXY genotype that promptly divided into a half XX, ... Dillema had refused to go to a mandatory sex test for the European championships in Brussels in August 1950. Her national ...
*  XX male syndrome
XX Testicular Disorder of Sex Development GeneReviews/NCBI/NIH/UW entry on 46,XY Disorder of Sex Development and 46,XY Complete ... The SRY gene plays an important role in sex determination by initiating testicular development. In most XX males the SRY gene ... XX Male Disorder of Sexual Development: A Case Report". Journal of Clinical Research in Pediatric Endocrinology. 5 (4): 258-260 ... Masculinization of SRY-negative XX males is dependent upon which genes have mutations and at what point in development these ...
*  Testis-determining factor
XX Testicular Disorder of Sex Development Genes, sry at the US National Library of Medicine Medical Subject Headings (MeSH) Sex ... XX Testicular Disorder of Sex Development OMIM entries on 46, ... Its expression causes the development of primary sex cords, ... Mutations of SF1 can lead to sex reversal and deletion lead to incomplete gonad development. However, it's not clear how SF1 ... Sekido R, Lovell-Badge R (2013). "Genetic control of testis development". Sex Dev. 7 (1-3): 21-32. doi:10.1159/000342221. PMID ...
*  Leydig cell hypoplasia
Disorders of sex development Intersexuality, pseudohermaphroditism, and ambiguous genitalia Hypogonadism and hypogonadotropic ... Wu SM, Leschek EW, Rennert OM, Chan WY (March 2000). "Luteinizing hormone receptor mutations in disorders of sexual development ... ISBN 978-3-319-27617-5. McCann-Crosby, Bonnie & Sutton, V. Reid (2015). "Disorders of Sexual Development". In Gambello, Michael ... Arnhold IJ, Latronico AC, Batista MC, Mendonca BB (April 1999). "Menstrual disorders and infertility caused by inactivating ...
*  Sex verification in sports
XX males), are discriminatory against women with disorders of sexual development, and may have shattering consequences for ... that athletes born with a disorder of sex development and raised as females be allowed to compete as women remains appropriate ... It is not always a simple case of checking for XX vs. XY chromosomes, or sex hormone levels, to determine whether an athlete is ... Sex verification in sports (also known as gender verification, or loosely as gender determination or a sex test) is the issue ...
*  Isolated 17,20-lyase deficiency
Inborn errors of steroid metabolism Disorders of sexual development Intersexuality, pseudohermaphroditism, and ambiguous ... in both sexes, as a reduced or absent puberty/lack of development of secondary sexual characteristics, resulting in a somewhat ... XY Disorders of Sexual Development". Pediatric Endocrinology. Retrieved 2012-05-25. Marschall Stevens Runge; Cam Patterson (20 ... due to a lack of negative feedback on account of the lack of sex hormones). Males and females may be treated with hormone ...
*  XX gonadal dysgenesis
... syndrome there is a demonstrable abnormality in or absence of one of the sex chromosomes that is the cause of the development ... eye disorder). It has been suggested to be a new type of syndrome. Gonadal dysgenesis Log In Problems Aittomäki, K; Lucena, JL ... In both sexes sensorineural deafness occurs but in females ovarian dysgenesis also occurs. XX gonadal dysgenesis is a type of ... In contrast XX gonadal dysgenesis has a normal female chromosome situation. Another type of XX gonadal dysgenesis is known as ...
*  The Focus Foundation
Sex Chromosome Disorders: A Very Common but Rarely Diagnosed Disorder appeared as a Special Feature May/June 2011 in the online ... Twenty babies born each day have an X & Y Chromosomal Variation, and only five will be diagnosed in their lifetime. Twenty ... Samango-Sprouse supported the efforts in content development and delivery as well as participating in recruitment, training ... NFC gfcvbhf The Foundation attempts to increase awareness about sex chromosome disorders in order to help children with these ...
*  XXYY syndrome
... symptoms Autism spectrum disorders Tall Scoliosis Clinodactyly Low muscle tone Flat feet Sterility Delayed sexual development ... XXYY syndrome is a sex chromosome anomaly in which males have an extra X and Y chromosome. Human cells usually contain two sex ... Usually, females have two X chromosomes (XX) and males have one X and one Y chromosome (XY). The appearance of at least one Y ... Common diagnoses such as learning disability/ID, ADHD, autism spectrum disorders, mood disorders, tic disorders, and other ...
*  Gonadal dysgenesis
The accompanying hormonal failure also prevents the development of secondary sex characteristics in either sex, resulting in a ... Internal female genitalia, primarily the uterus, may or may not be present depending on the cause of the disorder. In both ... The condition may be due to: Turner syndrome, and its variations (i.e. mosaicism) XX gonadal dysgenesis, also pure gonadal ... For this reason, in gonadal dysgenesis the accompanying hormonal failure also prevents the development of secondary sex ...
*  Sex-determination system
XX Developmental Testicular Disorder". New England Journal of Medicine. 364 (1): 91-93. doi:10.1056/NEJMc1010311. PMID 21208124 ... A sex-determination system is a biological system that determines the development of sexual characteristics in an organism. ... The XX/XY sex-determination system is the most familiar, as it is found in humans. The XX/XY system is found in most other ... In this system, most females have two of the same kind of sex chromosome (XX), while most males have two distinct sex ...
*  X chromosome
XX). XX male syndrome is a rare disorder, where the SRY region of the Y chromosome has recombined to be located on one of the X ... Cognitive development of children with sex chromosome abnormalities. San Diego: College Hill Press. pp. 175-201. "Triple X ... It is a part of the XY sex-determination system and X0 sex-determination system. The X chromosome was named for its unique ... This disorder causes a once healthy boy to lose all abilities to walk, talk, see, hear, and even swallow. Within 2 years after ...
*  Sexual differentiation in humans
... is the process of development of sex differences in humans. It is defined as the development ... XX), whereas to be a male, (XY) is needed. It is the Y chromosome that is essential for the development of the male ... observation of outcomes of small numbers of individuals with disorders of sexual development (intersex conditions or cases of ... Divergent sexual development, also known as intersexuality, can be a result of genetic and hormonal factors. A baby's sex is ...
*  Vaginal atresia
Fraser syndrome is a disorder that affects the development of the child prior to birth. Infants born with Fraser syndrome often ... Those born with this disorder are considered to be genetic female and have a 46XX chromosomes. Kidney anomalies often accompany ... As WNT4 gene is essential for developing a protein that is essential for female sex development, the Müllerian duct is either ... These disorders are: Rokitansky-Mayer-Küster-Hauser syndrome is a disorder in females that causes the uterus and vagina to be ...
*  17β-Hydroxysteroid dehydrogenase III deficiency
"Tumor Risk in Disorders of Sex Development". Sexual Development. 4 (4-5): 259-269. doi:10.1159/000314536. ISSN 1661-5433. ... Hewitt, Jacqueline K.; Warne, Garry L. (February 2009). "Management of disorders of sex development". Pediatric Health. 3 (1): ... Inborn errors of steroid metabolism Disorders of sexual development Intersex 17β-Hydroxysteroid dehydrogenase (III) Sex hormone ... XY disorder of sex development due to 17 beta hydroxysteroid dehydrogenase 3 deficiency". www.orpha.net. Retrieved 2017-03-12 ...
*  Anorchia
... (or anorchism) is an XY disorder of sex development in which individuals have both testes absent at birth. Within a ... and adolescent development. Anorchic individuals who have a female identity may be administered estrogen alone in place of ... which produce hormones responsible for the development of the reproductive system. If the testes fail to develop within eight ... Cryptorchidism Monorchism Polyorchidism 46 XX "Anorchia". University of Maryland Medical Center. Archived from the original on ...
*  Evolutionary approaches to depression
While certain mental disorders may have psychological traits that can be explained as 'adaptive' on an evolutionary scale, ... Kessler RC, McGonagle KA, Swartz M, Blazer DG, Nelson CB (1993). "Sex and depression in the National Comorbidity Survey. I: ... Seligman, Martin (1975). Helplessness: On Depression, Development and Death. San Francisco: W.H. Freeman. Andrews, P.W.; ... Some researchers have surmised that the disorder may have evolutionary roots, in the same way that others suggest evolutionary ...
*  Paramesonephric duct
"Normal male sexual differentiation and aetiology of disorders of sex development". Male Reproductive Endocrinology. 25 (2): 221 ... genital-010-Embryo Images at University of North Carolina How the Body Works / Sex Development / Sexual Differentiation / Duct ... Many types of disorders can occur when this system is disrupted ranging from uterine and vagina agenises to the duplication of ... The sex based differences in the contributions of the paramesonephric ducts to reproductive organs is based on the presence, ...
*  Metabolism
Volume IV: Modern Development of the Chemical and Biological Sciences Harper and Brothers (New York) Retrieved on 2007-03-26 ... Most bacteria and plants can synthesize all twenty, but mammals can only synthesize eleven nonessential amino acids, so nine ... The second law of thermodynamics states that in any closed system, the amount of entropy (disorder) cannot decrease. Although ... He described how he weighed himself before and after eating, sleep, working, sex, fasting, drinking, and excreting. He found ...
*  True hermaphroditism
... , clinically known as ovotesticular disorder of sex development, is a medical term for an intersex ... Encountered karyotypes include 47XXY, 46XX/46XY, or 46XX/47XXY or XX & XY with SRY Mutations, Mixed Chromosomal abnormalities ... The 3 Primary Karyotypes for True Hermaphroditism are XX with genetic defects (55-70% of cases), XX/XY (20-30% of cases) & XY ( ... According to Ovid, he fused with the nymph Salmacis resulting in one individual possessing physical traits of both sexes; ...
Ovotesticular Disorder of Sexual Development Treatment & Management: Medical Care, Surgical Care, Consultations  Ovotesticular Disorder of Sexual Development Treatment & Management: Medical Care, Surgical Care, Consultations
Such gonads are found exclusively in people with ovotesticular disorder of sexual development (OT-DSD), formerly known as true ... The role of the sex determining region of the X chromosome (SRY) in the etiology of 46XX true hermaphroditism. Hum Genet. 1992 ... XX Maleness and XX true hermaphroditism in SRY-negative monozygotic twins: additional evidence for a common origin. J Clin ... Josso N, Audi L, Shaw G. Regional variations in the management of testicular or ovotesticular disorders of sex development. Sex ...
more infohttps://emedicine.medscape.com/article/256289-treatment
Gonadoblastoma: Background, Pathophysiology, Epidemiology  Gonadoblastoma: Background, Pathophysiology, Epidemiology
... benign tumor that has the potential for malignant transformation and affects a subset of patients with an intersex disorder or ... 9p partial monosomy and disorders of sex development: review and postulation of a pathogenetic mechanism. Am J Med Genet A. ... XX karyotype: case report and review of the literature. Arch Gynecol Obstet. 2012 Feb. 285(2):447-51. [Medline]. ... Hersmus R, Stoop H, White SJ, Drop SL, Oosterhuis JW, Incrocci L. Delayed Recognition of Disorders of Sex Development (DSD): A ...
more infohttps://emedicine.medscape.com/article/986581-overview
Evaluation and treatment for ovotesticular disorder of sex development (OT-DSD) - experience based on a Chinese series | BMC...  Evaluation and treatment for ovotesticular disorder of sex development (OT-DSD) - experience based on a Chinese series | BMC...
XX/47,XXY in OT-DSD is very rare with less than 10 cases reported worldwide [13]. Our patient 9 is 2 years and 5 months old ... OvotestisHypospadiasUrethroplastyDisorder of sex development. Background. The nomenclature ovotesticular disorder of sex ... D'Alberton F. Disclosing disorders of sex development and opening the doors. Sex Dev. 2010;4:304-9.View ArticlePubMedGoogle ... Ovotesticular disorder of sex development with unusual karyotype: patient report. J Pediatr Endocrinol Metab. 2015;28:677-80. ...
more infohttps://bmcurol.biomedcentral.com/articles/10.1186/s12894-017-0212-8/
Androgen Insensitivity Syndrome (Androgen Resistance Syndrome) | SYMPTOMA.com  Androgen Insensitivity Syndrome (Androgen Resistance Syndrome) | SYMPTOMA.com
Novel Associations in Disorders of Sex Development: Findings from the I-DSD Registry. J Clin Endocrinol Metab. Feb 2014; 99(2): ... XX congenital virilizing adrenal hyperplasia and 46, XY androgen-insensitivity syndrome - J Money, M Schwartz, VG Lewis - ... An international study of sex development disorder registered an 11% incidence of AIS with genital anomalies and 5.2% has a ... Consortium on the Management of Disorders of Sex Development. Handbook for Parents. ISNA; 2006. ...
more infohttps://www.symptoma.com/en/info/androgen-insensitivity-syndrome
PPT - Challenges in clinical and laboratory diagnosis of androgen insensitivity syndrome: a case report PowerPoint Presentation...  PPT - Challenges in clinical and laboratory diagnosis of androgen insensitivity syndrome: a case report PowerPoint Presentation...
AIS Overview . AIS is an X-linked disorder caused by mutations in the Androgen Receptor gene Slideshow 790405 by machiko ... Responsible for male sex differentiation during embryogenesis. *The sex-determining region on the Y chromosome (SRY) directs ... Endocrine Disorder -. 부산백병원 산부인과 r4 서 영 진. hyperandrogenism. hirsutism : result of androgen excess → abnormalities of ovary, ... A patient with abnormal genital development represents a difficult diagnostic and therapeutic challenge ...
more infohttps://www.slideserve.com/machiko/challenges-in-clinical-and-laboratory-diagnosis-of-androgen-insensitivity-syndrome-a-case-report
46,XX testicular disorders of sex development - Wikipedia  46,XX testicular disorders of sex development - Wikipedia
XX testicular disorder. XX male syndrome Disorders of sex development Intersex medical interventions RESERVED, INSERM US14 -- ... XX testicular disorder of sex development. The cause of the disorder in these individuals is often unknown, although changes ... XX testicular disorders of sex development may also be named 46,XX sex reversal, nonsyndromic 46,XX testicular DSD, XX male ... XX testicular disorder of sex development. About 20 percent of those with 46 XX testicular disorder of sex development do not ...
more infohttps://en.wikipedia.org/wiki/46,XX_testicular_disorders_of_sex_development
46,XX testicular disorder of sex development             | Genetic and Rare Diseases Information Center (GARD) - an NCATS...  46,XX testicular disorder of sex development | Genetic and Rare Diseases Information Center (GARD) - an NCATS...
... of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for 46,XX ... XX testicular disorder of sex development Información en español Title Other Names:. 46,XX testicular DSD; 46,XX gonadal ... XX testicular disorder of sex development is a condition in which a person with two X chromosomes. (which is normally found in ... ghr.nlm.nih.gov/condition/46xx-testicular-disorder-of-sex-development. Do you know of a review article? We want to hear from ...
more infohttps://rarediseases.info.nih.gov/diseases/399/46xx-testicular-disorder-of-sex-development
Y chromosome - Genetics Home Reference - NIH  Y chromosome - Genetics Home Reference - NIH
XX testicular disorder of sex development, the condition results from an abnormal exchange of genetic material between ... the genes on this chromosome tend to be involved in male sex determination and development. Sex is determined by the SRY gene, ... The Y chromosome is one of the two sex chromosomes in humans (the other is the X chromosome). The sex chromosomes form one of ... Chromosomal conditions involving the sex chromosomes often affect sex determination (whether a person has the sexual ...
more infohttps://ghr.nlm.nih.gov/chromosome/Y
NICE Evidence Search | testicular cancer  NICE Evidence Search | testicular cancer
XX Testicular. Disorders of Sex Development Source: GeneReviews - 30 October 2003. - Publisher: Genereviews(r) ... XX testicular. disorders of sex development (46,XX testicular. DSD) are characterized by the presence of a... ... 20 August 2013. - Publisher: Public Health England Originally published by the National Cancer Intelligence Network This ...
more infohttps://www.evidence.nhs.uk/Search?om=%5B%7B%22ety%22:%5B%22Evidence%20Summaries%22%5D%7D%5D&pa=1&q=testicular+cancer&sp=on
NICE Evidence Search | testicular cancer  NICE Evidence Search | testicular cancer
XX Testicular. Disorders of Sex Development Remove: GeneReviews source - 30 October 2003. - Publisher: Genereviews(r) ... XX testicular. disorders of sex development (46,XX testicular. DSD) are characterized by the presence of a... ...
more infohttps://www.evidence.nhs.uk/Search?om=%5B%7B%22srn%22:%5B%22British%20HIV%20Association%20-%20BHIVA%22%5D%7D,%7B%22srn%22:%5B%22GeneReviews%22%5D%7D%5D&q=testicular+cancer&sp=on
Comparison of Cortisol Pump With Standard Treatment for Congenital Adrenal Hyperplasia - Full Text View - ClinicalTrials.gov  Comparison of Cortisol Pump With Standard Treatment for Congenital Adrenal Hyperplasia - Full Text View - ClinicalTrials.gov
XX Disorders of Sex Development. Insulin. Insulin, Globin Zinc. Hydrocortisone. Hydrocortisone 17-butyrate 21-propionate. ... Disorders of Sex Development. Urogenital Abnormalities. Congenital Abnormalities. Genetic Diseases, Inborn. Steroid Metabolism ... Congenital adrenal hyperplasia (CAH) is a genetic disorder of the adrenal gland. The adrenal gland is located in the abdomen ... These hormones help control blood pressure, protect the body, and maintain good health, especially during development. People ...
more infohttps://www.clinicaltrials.gov/ct2/show/NCT01859312?term=HYDROXYPROGESTERONE&
The Effect of Metformin Added to Clomiphene Citrate on Pregnancy Rates in Hyperandrogenic, Chronic Oligoovulatory or...  The Effect of Metformin Added to Clomiphene Citrate on Pregnancy Rates in Hyperandrogenic, Chronic Oligoovulatory or...
XX Disorders of Sex Development. Disorders of Sex Development. Urogenital Abnormalities. Adrenogenital Syndrome. Congenital ... Approximately 20% of women with PCOS are resistant to clomiphene citrate. Subjects with chronic oligoovulation or anovulation ...
more infohttps://www.clinicaltrials.gov/ct2/show/NCT00413179
Acute psoriasis-like calf rash and Face rash and Itchy face in children and Popliteal fossa blister and Swelling symptoms -...  Acute psoriasis-like calf rash and Face rash and Itchy face in children and Popliteal fossa blister and Swelling symptoms -...
XX testicular disorder of sex development. 9. Aagenaes syndrome. 10. Aase Smith syndrome. More causes » , Show All 3609 Causes ... AND Hand and foot rashes due to skin disorders in children (1 match) ...
more infohttps://wrongdiagnosis.com/cosymptoms/acute-psoriasis-like-calf-rash/face-rash/itchy-face-in-children/popliteal-fossa-blister/swelling-symptoms.htm
Dark and light patches on the skin and Intercourse symptoms - Symptom Checker - check medical symptoms at RightDiagnosis  Dark and light patches on the skin and Intercourse symptoms - Symptom Checker - check medical symptoms at RightDiagnosis
XX testicular disorder of sex development. 3. Abdominal Cancer. 4. Achondroplasia. 5. Acromegaloid, Cutis Verticis Gyrata, ... Skin disorder *Skin problem *Skin pain (116 causes) *more symptoms...» Broaden Your Search: Remove a Symptom. *REMOVE Dark and ...
more infohttp://wrongdiagnosis.com/cosymptoms/dark-and-light-patches-on-the-skin/intercourse-symptoms.htm
Arab female and male perceptions of factors facilitating and inhibiting their physical activity: Findings from a qualitative...  Arab female and male perceptions of factors facilitating and inhibiting their physical activity: Findings from a qualitative...
Xx Testicular Disorders Of Sex Development. Congenital conditions in individuals in which male GONADS develop in a genetic ... The male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes ... The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in ... A condition occurring in the female offspring of dizygotic twins (TWIN, DIZYGOTIC) in a mixed-sex pregnancy, usually in CATTLE ...
more infohttps://www.bioportfolio.com/resources/pmarticle/2098838/Arab-female-and-male-perceptions-of-factors-facilitating-and-inhibiting-their-physical.html
Gender Discrepancy Case Study | Childrens Hospital of Philadelphia  Gender Discrepancy Case Study | Children's Hospital of Philadelphia
XX testicular disorder of sex development (46, XX testicular DSD), which is sometimes still referred to as 46, XX male syndrome ... XX Testicular Disorder of Sex Development. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. ... The majority demonstrate the presence of SRY (sex-determining region of Y) within their genome, most commonly on one of the X ... Fluorescence in situ hybridization (FISH) studies demonstrated a copy of the SRY gene (sex-determining region of Y) on the ...
more infohttps://www.chop.edu/pages/gender-discrepancy-case-study
Joel N Hirschhorn  Joel N Hirschhorn
XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant.. Authors:. Jonathan M ... Twenty-eight genetic loci associated with ST-T-wave amplitudes of the electrocardiogram.. Authors:. Niek Verweij Irene Mateo ... Determinants of Power in Gene-Based Burden Testing for Monogenic Disorders.. Authors:. Michael H Guo Andrew Dauber Margaret F ... Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion ...
more infohttps://www.pubfacts.com/author/Joel+N+Hirschhorn
Male sexual symptoms - RightDiagnosis.com  Male sexual symptoms - RightDiagnosis.com
XX testicular disorder of sex development - reduced hormone production by testes *46,XX testicular DSD - reduced hormone ... XX testicular disorder of sex development ... reduced hormone production by testes*46,XX testicular DSD ... reduced hormone ... Male disorder *Sexual *Sexual disease *Sexual disorder *Sexual pain (112 causes) *more symptoms...» Causes of Similar Symptoms ... Sexual Disorders & STDs -- serious diseases often undiagnosed: *Sexually Transmitted Diseases -- Undiagnosed *Chlamydia -- ...
more infohttps://www.rightdiagnosis.com/sym/male_sexual_symptoms.htm
Pseudohermaphroditism disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials  Pseudohermaphroditism disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
... xx disorder of sex development-anorectal anomalies syndrome 11.2. 34. genitopalatocardiac syndrome 11.1. ... sex differentiation. GO:0007548 9.1. AMH AMHR2 AR CYP17A1 SRD5A2 SRY 28. oxidation-reduction process. GO:0055114 10. CYP17A1 ... female gonad development. GO:0008585 9.67. AMHR2 CYP19A1 LHCGR NR5A1 5. steroid biosynthetic process. GO:0006694 9.65. CYP17A1 ... male genitalia development. GO:0030539 9.62. HSD17B3 LHCGR SRD5A2 WT1 12. androgen metabolic process. GO:0008209 9.61. CYP19A1 ...
more infohttps://www.malacards.org/card/pseudohermaphroditism
Growth symptoms - RightDiagnosis.com  Growth symptoms - RightDiagnosis.com
XX testicular disorder of sex development ... small stature*46,XX testicular DSD ... small stature*49,XXXXX syndrome ... short ... Chondrodysplasia -- disorder of sex development ... retarded fetal growth*Chondrodysplasia -- pseudohermaphrodism ... retarded ... Congenital disorder of glycosylation type 1G ... failure to thrive*Congenital disorder of glycosylation type 1I ... failure to ... Congenital disorder of glycosylation type 1K ... failure to thrive*Congenital disorder of glycosylation type 1L ... failure to ...
more infohttps://www.rightdiagnosis.com/sym/growth_symptoms.htm
A 6-month-old boy with bilateral breast enlargement | ADC Education & Practice Edition  A 6-month-old boy with bilateral breast enlargement | ADC Education & Practice Edition
XX disorder of sex development. *. 17α-hydroxylase deficiency. *. 46,XY disorder of sex development ... contact with oestrogen products or familial breast disorder. He had bilateral painless breast enlargement without nipple ...
more infohttp://ep.bmj.com/content/102/2/111
RCPA - Gene Panels  RCPA - Gene Panels
XX Gene Panel Panel QLD Disorders of Sex Development 46,XY Gene Panel Panel QLD ... Migrainous Disorders Next Generation Sequencing Panel (CADASIL, FHM1, FHM2, FHM3, EA2, SCA6) Panel QLD ... Disorders of Sex Development 46, ...
more infohttps://www.rcpa.edu.au/Library/Practising-Pathology/RCPA-Genetic-Testing/RGTL/Items/Tests/GenePanels
  • The deficiency results in impaired synthesis of all three categories of adrenal steroids (cortisol, mineralocorticoids, sex steroids) and high levels of adrenocorticotropic hormone (ACTH). (wikipedia.org)
  • Because P450scc and StAR are also essential for sex steroid synthesis in the testis and ovary, the production of testosterone by Leydig cells in the testis and androgen (which leads to estrogen production by granulosa cells) and progesterone by ovarian theca cells and luteal cells, respectively, can also be impaired. (wikipedia.org)
  • Although gender assignment in the newborn period should be based on the individual's potential for normal sexual function and the potential for future reproductive function, most cases of ovotesticular disorder of sexual development are diagnosed during the adolescent period. (medscape.com)
  • With the exception of 46,XX individuals with CAH or documented maternal androgen excess, most patients with genital ambiguity require surgical exploration for diagnostic confirmation and removal of contradictory gonadal tissue. (medscape.com)
  • Although the disorder is considered autosomal recessive, a single mutation in P450scc can be sufficient to cause the condition. (wikipedia.org)
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