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.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.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.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.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.Hypospadias: A birth defect due to malformation of the URETHRA in which the urethral opening is below its normal location. In the male, the malformed urethra generally opens on the ventral surface of the PENIS or on the PERINEUM. In the female, the malformed urethral opening is in the VAGINA.Sex Reassignment Procedures: Clinical treatments used to change the physiological sexual characteristics of an individual.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.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.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).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.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.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.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).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.
(1/35) Molecular analysis of the SRD5A2 in 46,XY subjects with incomplete virilization: the P212R substitution of the steroid 5alpha-reductase 2 may constitute an ancestral founder mutation in Mexican patients.

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(2/35) Five novel mutations of SRD5A2 found in eight Chinese patients with 46,XY disorders of sex development.

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(3/35) A missense mutation of the Dhh gene is associated with male pseudohermaphroditic rats showing impaired Leydig cell development.

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(4/35) Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination.

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(5/35) Clinical, genetic, and pathological features of male pseudohermaphroditism in dog.

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(6/35) Recognition of 5alpha-reductase-2 deficiency in an adult female 46XY DSD clinic.

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(7/35) Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations.

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(8/35) Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia.

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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- ... Inborn errors of steroid metabolism Congenital adrenal hyperplasia Adrenal insufficiency Disorders of sexual development ... Surgery need never be considered for genetically male (XY) infants because the excess androgens do not produce anatomic ... 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, ... It promotes female sex development and represses male sex development. Loss of function can have serious consequences, such as ... If deficient in XY mice, there is a delay in Sertoli cell differentiation. Moreover, there is delay in sex cord formation. ... If this signaling is deficient in XY mice, female genes are unrepressed. With no FGF2, there is a partial sex reversal. With no ...
*  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 ... XY sex reversal and adrenal insufficiency". J Clin Endocrinol Metab. 86 (8): 3820-5. doi:10.1210/jc.86.8.3820. PMID 11502818. ... All forms of CAH involve excessive or defective production of sex steroids and can prevent or impair development of primary or ...
*  17β-Hydroxysteroid dehydrogenase III deficiency
XY disorder of sex development due to 17 beta hydroxysteroid dehydrogenase 3 deficiency". www.orpha.net. Retrieved 2017-03-12 ... "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 gonadal dysgenesis
XY disorders of sex development". J Pediatr Urol. 9 (3): 368-379. doi:10.1016/j.jpurol.2012.12.002. PMID 23276787. CS1 maint: ... The first known step of sexual differentiation of a normal XY fetus is the development of testes. The early stages of ... Due to the inability of the streak gonads to produce sex hormones (both estrogens and androgens), most of the secondary sex ... XY), as opposed to those whose gonadal dysgenesis results from missing all or part of the second sex chromosome. The latter ...
*  XX male syndrome
XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis. ... XX Testicular Disorder of Sex Development GeneReviews/NCBI/NIH/UW entry on 46, ... 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 ...
*  DAX1
XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis OMIM entries on 46,XY Disorder of Sex Development and 46, ... 1.1 of Stefan White & Andrew Sinclair: The Molecular Basis of Gonadal Development and Disorders of Sex Development, in: John M ... Disorders of Sex Development. An Integrated Approach to Management, Springer 2012, ISBN 978-3-642-22963-3, e-ISBN 978-3-642- ... DAX1 (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1) is a nuclear receptor protein ...
*  Genetics of infertility
XY karyotype and disorders of sex development (DSD), Mullerian structures and primary adrenal failure (MIM 612965). After that ... XY sex reversal with primary adrenal failure to male infertility. For the first time, Bashamboo et al. (2010) conducted a study ... The underlying causative factors in the male infertility can be attributed to environmental toxins, systemic disorders such as ... XY karyotype and ambiguous genitalia, gonadal dysgenesis, but no adrenal insufficiency. Since then, studies have confirmed that ...
*  Foekje Dillema
Dillema was probably an 46XX/46XY woman also known as ovotesticular disorder of sex development (DSD) or true hermaphroditism. ... XY (male) chromosomes, in approximately a one-to-one ratio, in her skin. The forensic report speculated that Dillema developed ... Dillema had refused to go to a mandatory sex test for the European championships in Brussels in August 1950. Her national ... from a zygote with an XXY genotype that promptly divided into a half XX, half XY embryo through nondisjunction. ...
*  Leydig cell hypoplasia
Disorders of sex development Intersexuality, pseudohermaphroditism, and ambiguous genitalia Hypogonadism and hypogonadotropic ... XY males may be required, and, if necessary, an orchidopexy (relocation of the undescended testes to the scrotum) may be ... 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 ...
*  45,X/46,XY mosaicism
XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis, is a rare disorder of sex development in humans ... Psychomotor development is normal. As the gonads may not be symmetrical, the development of the Müllerian duct and Wolffian ... XY karyotype has significant clinical implications due to known effects on growth, hormonal balance, gonadal development and ... All the cells created from the cells that have not lost the Y chromosome will be XY. The 46,XY cells will continue to multiply ...
*  XX gonadal dysgenesis
XY, and thus gonadectomy is recommended. In Turner syndrome there is a demonstrable abnormality in or absence of one of the sex ... This is especially true of estrogenic changes such as breast development, widening of the pelvis and hips, and menstrual ... eye disorder). It has been suggested to be a new type of syndrome. Gonadal dysgenesis Log In Problems Aittomäki, K; Lucena, JL ... Because of the inability of the streak gonads to produce sex hormones (both estrogens and androgens), most of the secondary sex ...
*  The Focus Foundation
Sex Chromosome Disorders: A Very Common but Rarely Diagnosed Disorder appeared as a Special Feature May/June 2011 in the online ... but frequently undiagnosed genetic conditions that differ from the normal sex chromosome pairings of XX for females and XY for ... 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 ...
*  Isolated 17,20-lyase deficiency
XY Disorders of Sexual Development". Pediatric Endocrinology. Retrieved 2012-05-25. Marschall Stevens Runge; Cam Patterson (20 ... in both sexes, as a reduced or absent puberty/lack of development of secondary sexual characteristics, resulting in a somewhat ... Inborn errors of steroid metabolism Disorders of sexual development Intersexuality, pseudohermaphroditism, and ambiguous ... XY (genetically male) individuals who are phenotypically female and/or identify as the female gender, they should be treated ...
*  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 ... XY. Ovotestis 46 XX Eberhard Nieschlag; Hermann M. Behre; Susan Nieschlag (July 2009). Andrology: Male Reproductive Health and ... For this reason, in gonadal dysgenesis the accompanying hormonal failure also prevents the development of secondary sex ...
*  Campomelic dysplasia
XY genotypic males display a range of Disorders of Sexual Development (DSD) and genital ambiguities or may even develop as ... of the 1 Mb SOX9 59 control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex ... 1994). "Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9". Cell ... While the definitive presentation of the disease is a patient having bowed lower limbs and sex reversal in 46,XY males, there ...
*  XXYY syndrome
XY). 48,XXYY syndrome results from the presence of an extra copy of both sex chromosomes in each of a male's cells (48,XXYY). ... symptoms Autism spectrum disorders Tall Scoliosis Clinodactyly Low muscle tone Flat feet Sterility Delayed sexual development ... Common diagnoses such as learning disability/ID, ADHD, autism spectrum disorders, mood disorders, tic disorders, and other ... neurodevelopmental disorders such as attention deficit hyperactivity disorder (ADHD) or autism spectrum disorders, and ...
*  X chromosome
It is a part of the XY sex-determination system and X0 sex-determination system. The X chromosome was named for its unique ... Cognitive development of children with sex chromosome abnormalities. San Diego: College Hill Press. pp. 175-201. "Triple X ... This disorder causes a once healthy boy to lose all abilities to walk, talk, see, hear, and even swallow. Within 2 years after ... Genetic disorders that are due to mutations in genes on the X chromosome are described as X linked. The X chromosome carries ...
*  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 ... XY karyotype, ultrasound or magnetic resonance imaging showing absent gonadal tissue, low bone density, low anti-Müllerian ... which produce hormones responsible for the development of the reproductive system. If the testes fail to develop within eight ...
*  Allosome
XX testicular disorder of sex development, also called XX male syndrome, is a condition in which individuals with two X ... Fisher's principle Haldane's rule XY sex-determination system ZW sex-determination system X0 sex-determination system http:// ... Genes that are carried by either sex chromosome are said to be sex linked. Sex-linked diseases are passed down through families ... XX testicular disorder of sex development, the condition results from an abnormal exchange of genetic material between ...
*  M33 (gene)
Ono, Makoto; Harley, Vincent R. (2013-02-01). "Disorders of sex development: new genes, new concepts". Nature Reviews. ... The expression of Sry and Sox9 genes in gonads of XY Cbx2-knockout mice is reduced, suggesting that Cbx2 is required for the ... Pearce, J. J.; Singh, P. B.; Gaunt, S. J. (1992-04-01). "The mouse has a Polycomb-like chromobox gene". Development. 114 (4): ... It may also involved in the campomelic syndrome and neoplastic disorders linked to allele loss in this region. Disruption of ...
*  Sexual differentiation in humans
The development of sexual differences begins with the XY sex-determination system that is present in humans, and complex ... observation of outcomes of small numbers of individuals with disorders of sexual development (intersex conditions or cases of ... XY differences of sex development - Atypical androgen production or inadequate androgen response, which can cause incomplete ... Sexual differentiation in humans is the process of development of sex differences in humans. It is defined as the development ...
*  Sex-determination system
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 ... A sex-determination system is a biological system that determines the development of sexual characteristics in an organism. ... XX Developmental Testicular Disorder". New England Journal of Medicine. 364 (1): 91-93. doi:10.1056/NEJMc1010311. PMID 21208124 ... This allows WY, WX, or XX females and YY or XY males. The accepted hypothesis of XY and ZW sex chromosome evolution is that ...
*  Nondisjunction
... or XY (male). Formally, X chromosome monosomy (Turner syndrome, see above) can also be classified as a form of sex chromosome ... may support the development of a viable trisomy of the other chromosomes. The term sex chromosome aneuploidy summarizes ... technique used to identify genetically normal embryos and is useful for couples who have a family history of genetic disorders ... The term autosomal trisomy means that a chromosome other than the sex chromosomes X and Y is present in 3 copies instead of the ...
*  Chromosome
Maternal influence on sex determination Non-disjunction Sex-determination system XY sex-determination system X-chromosome X- ... The Rare Chromosome Disorder Support Group Support for people with rare chromosome disorders. ... Females with Turner syndrome often have a short stature, low hairline, abnormal eye features and bone development and a "caved- ... and sex chromosomes (here X/Y) at the end. Like many sexually reproducing species, humans have special gonosomes (sex ...
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...
XY in 1. Initial reared sex was male in 14 patients, female in 1, and undetermined in 1. After surgery, genders were reassigned ... 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/
Partial androgen insensitivity syndrome - Wikipedia  Partial androgen insensitivity syndrome - Wikipedia
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 ...
more infohttps://en.wikipedia.org/wiki/Partial_androgen_insensitivity_syndrome
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): ... Androgen insensitivity syndrome (AIS) is a clinical disease characterized by genotypic male person (with XY sex chromosomes) ... 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 ... XY) with female external genitalia, blind vaginas, an absent uterus, normal breast development, and abdominal or inguinal ... 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, ...
more infohttps://www.slideserve.com/machiko/challenges-in-clinical-and-laboratory-diagnosis-of-androgen-insensitivity-syndrome-a-case-report
Androgen Insensitivity Syndrome  Androgen Insensitivity Syndrome
Three novel and two known androgen receptor gene mutations associated with androgen insensitivity syndrome in sex-reversed XY ... XY female is characterised by a male karyotype and female phenotype arising due to any interruption in the sexual development ... in its complete form is a disorder of hormone resistance characterised by a female phenotype in an individual with an XY ... Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have mostly female sex ...
more infohttp://www.diseaseinfosearch.org/result/435
Aetiological bases of 46,XY disorders of sex development in the Hong Kong Chinese population | HKMJ  Aetiological bases of 46,XY disorders of sex development in the Hong Kong Chinese population | HKMJ
Objective: Disorders of sex development are due to congenital defects in chromosomal, gonadal, or anatomical sex development. ... Consortium on the Management of Disorders of Sex Development: Clinical Guidelines for the Management of Disorders of Sex ... Assignment of the sex of rearing in the neonate with a disorder of sex development. Curr Opin Pediatr 2009;21:541-7. CrossRef ... Disorders of sex development (DSD) are defined as congenital conditions in which development of chromosomal, gonadal, or ...
more infohttp://www.hkmj.org/abstracts/v21n6/499.htm
46,XY disorder of sex development (DSD) due to 17 beta-hydroxysteroid dehydrogenase type 3 deficiency  46,XY disorder of sex development (DSD) due to 17 beta-hydroxysteroid dehydrogenase type 3 deficiency
XY disorder of sex development (DSD) due to 17 beta-hydroxysteroid dehydrogenase type 3 deficiency. MENDONCA, Berenice B. ; ... XY disorder of sex development (DSD) due to 17 beta-hydroxysteroid dehydrogenase type 3 deficiency. Login ... In male social sex patients, testes can be safely maintained, as long as they are positioned inside the scrotum The phenotype ... The disorder is caused by a homozygous or compound heterozygous mutations in the HSD17B3 gene that encodes the 17 beta-HSD3 ...
more infohttp://observatorio.fm.usp.br/handle/OPI/17836
Genetic Screening of Iranian Patients with 46XY Disorders of Sex Development -  Reports of Biochemistry and Molecular Biology  Genetic Screening of Iranian Patients with 46XY Disorders of Sex Development - Reports of Biochemistry and Molecular Biology
Despite advances in exploration of genes and mechanisms involved in sex disorders, most children with severe ... ... Disorders of sex development (DSDs) belong to uncommon pathologies and result from abnormalities during gonadal determination ... XY Disorders of Sex Development Azadeh Shojaei * , Reza Ebrahimzadeh-Vesal , Ali Ahani , Maryam Razzaghy-Azar , Golnaz Khakpour ... Background: Disorders of sex development (DSDs) belong to uncommon pathologies and result from abnormalities during gonadal ...
more infohttp://rbmb.net/browse.php?a_id=147&sid=1&slc_lang=en
Genetic Screening of Iranian Patients with 46XY Disorders of Sex Development -  Reports of Biochemistry and Molecular Biology  Genetic Screening of Iranian Patients with 46XY Disorders of Sex Development - Reports of Biochemistry and Molecular Biology
Despite advances in exploration of genes and mechanisms involved in sex disorders, most children with severe ... ... Disorders of sex development (DSDs) belong to uncommon pathologies and result from abnormalities during gonadal determination ... XY Disorders of Sex Development Azadeh Shojaei * , Reza Ebrahimzadeh-Vesal , Ali Ahani , Maryam Razzaghy-Azar , Golnaz Khakpour ... Background: Disorders of sex development (DSDs) belong to uncommon pathologies and result from abnormalities during gonadal ...
more infohttp://rbmb.net/article-1-147-en.html
SEX Ȥ  -  ϤƤʥ      SEX Ȥ - ϤƤʥ 
SEX פȤ - ???? Ǥϡ?? ?? ?ͺ???̡פ???????? Ѹ??SEX ä?? ?? ?? ????? ?? Υ å äư?? ?? ... - Yahoo!?? ?? 餷 SPACE ALC 츻 ŵ ?? ٤ ޤ Ʊ ???? ?Τ ... XY Disorder of Sex Development due to 17-Beta Hyd.. B! 2018-09-06. DSDstorage ³ ??ɤ ... Ȥ sex ΰ?? ??Ȥ Ȥˤʤꤳ ?? ?? ????̤ sex ?? ???(Identity) δ֤ Disorder Ȥ ?ɤ ޤǤ sex,gender ȸ ʤ Τ ϤϤä ꤻ ޤ sex ˤ Ƥ XY Τߤʤ??¿ Ұ??? β ... XY Disorder of Sex Development due to 17-Beta H... J Clin Res Pediatr Endocrinol. 2018 Mar 1;10(1):74-78
more infohttp://d.hatena.ne.jp/keyword/SEX
Studying the Effects of 7 Days of Gonadotropin Releasing Hormone (GnRH) Treatment in Men With Hypogonadism - Full Text View -...  Studying the Effects of 7 Days of Gonadotropin Releasing Hormone (GnRH) Treatment in Men With Hypogonadism - Full Text View -...
XY Disorders of Sex Development. Disorders of Sex Development. Urogenital Abnormalities. Congenital Abnormalities. Genetic ... Keywords provided by William F. Crowley, Jr., M.D., National Institute of Child Health and Human Development: ... Role of seminiferous tubular development in determining the FSH versus LH responsiveness to GnRH in early sexual maturation. ... William F. Crowley, Jr., M.D., Professor, National Institute of Child Health and Human Development. ...
more infohttps://clinicaltrials.gov/ct2/show/NCT00493961?term=Williams+Syndrome&rank=17
The Genetic Investigation of Reproductive Disorders (Including Kallmann Syndrome) - Full Text View - ClinicalTrials.gov  The Genetic Investigation of Reproductive Disorders (Including Kallmann Syndrome) - Full Text View - ClinicalTrials.gov
XY Disorders of Sex Development. Disorders of Sex Development. Urogenital Abnormalities. Congenital Abnormalities. Genetic ... The Genetic Investigation of Reproductive Disorders (Including Kallmann Syndrome). The safety and scientific validity of this ... Gonadal Disorders. Endocrine System Diseases. Ovarian Cysts. Cysts. Neoplasms. Ovarian Diseases. Adnexal Diseases. Genital ... Disorders of puberty have provided insight into the biology of reproduction and genetic technologies have enabled us to deepen ...
more infohttps://clinicaltrials.gov/ct2/show/NCT01601171?cond=%22Kallmann+syndrome%22&rank=10
5-Alpha-Reductase Deficiency: Background, Pathophysiology, Epidemiology  5-Alpha-Reductase Deficiency: Background, Pathophysiology, Epidemiology
... is an autosomal recessive sex-limited condition resulting in the inability to convert testosterone to the more physiologically ... XY disorders of sex development. J Pediatr Endocrinol Metab. 2008 Jun. 21(6):545-53. [Medline]. ... Consensus statement on terminology and management: disorders of sex development. Sex Dev. 2008. 2(4-5):172-80. [Medline]. ... XY disorders of sex development (DSD). Clinical Endocrinology. 2009. 70:173-187. ...
more infohttps://emedicine.medscape.com/article/924291-overview
5-Alpha-Reductase Deficiency Treatment & Management: Medical Care, Surgical Care, Consultations  5-Alpha-Reductase Deficiency Treatment & Management: Medical Care, Surgical Care, Consultations
... is an autosomal recessive sex-limited condition resulting in the inability to convert testosterone to the more physiologically ... XY disorders of sex development. J Pediatr Endocrinol Metab. 2008 Jun. 21(6):545-53. [Medline]. ... Consensus statement on terminology and management: disorders of sex development. Sex Dev. 2008. 2(4-5):172-80. [Medline]. ... XY disorders of sex development (DSD). Clinical Endocrinology. 2009. 70:173-187. ...
more infohttps://emedicine.medscape.com/article/924291-treatment
prof. Marnik Vuylsteke  prof. Marnik Vuylsteke
XY disorders of sex development Dorien Baetens (UGent) , Tülay Güran, Berenice B Mendonca, Nathalia L Gomes, Lode De Cauwer ( ... Identification and characterization of a Masculinizer (Masc) gene involved in sex differentiation in Artemia Dong-Rui Li, Hui- ... ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis- ... Biallelic and monoallelic ESR2 variants associated with 46, ...
more infohttps://biblio.ugent.be/person/801001487692?limit=10&sort=year.desc&sort=datecreated.desc&start=
Ghent University Academic Bibliography  Ghent University Academic Bibliography
XY disorders of sex development Dorien Baetens (UGent) , Tülay Güran, Berenice B Mendonca, Nathalia L Gomes, Lode De Cauwer ( ... Towards the development of a RNAi-based topical treatment for psoriasis : proof-of-concept in a 3D psoriasis skin model Eline ... Disruption of the pathogenicity and sex ratio of the beet cyst nematode Heterodera schachtii by host-delivered RNA interference ... Biallelic and monoallelic ESR2 variants associated with 46, ...
more infohttps://biblio.ugent.be/publication?q=keyword+exact+%22GENES%22
KEGG ORTHOLOGY: K08557  KEGG ORTHOLOGY: K08557
XY disorders of sex development (Disorders in androgen synthesis or action) ...
more infohttp://www.genome.jp/dbget-bin/www_bget?ko:K08557
546[geneid] - GTR - NCBI  546[geneid] - GTR - NCBI
XY Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel. Genetic Services Laboratory University ...
more infohttps://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=546%5Bgeneid%5D
Supplementary Material for: NR5A1 Gene Mutations: Clinical, Endocrine and Genetic Features in Two Girls with 46,XY Disorder of...  Supplementary Material for: NR5A1 Gene Mutations: Clinical, Endocrine and Genetic Features in Two Girls with 46,XY Disorder of...
Endocrine and Genetic Features in Two Girls with 46,XY Disorder of Sex Development ... XY Disorder of Sex Development. 2014-01-16T00:00:00Z (GMT) by Bertelloni S. Dati E. Baldinotti F. Toschi B. Marrocco G. Sessa M ... XY disorders of sex development (DSD). Patients and Methods:NR5A1 gene sequencing was performed in a cohort of 6 patients with ... Disorders of sex development Steroidogenic factor 1 NR5A1 gene Gonadal function Long-term management ...
more infohttps://figshare.com/articles/Supplementary_Material_for_NR5A1_Gene_Mutations_Clinical_Endocrine_and_Genetic_Features_in_Two_Girls_with_46_XY_Disorder_of_Sex_Development/5125573/1
Kallmann Syndrome | Harvard Catalyst Profiles | Harvard Catalyst  Kallmann Syndrome | Harvard Catalyst Profiles | Harvard Catalyst
XY Disorders of Sex Development [C13.351.875.253.096]. *Kallmann Syndrome [C13.351.875.253.096.750] ... A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by ... Disorders of Sex Development [C13.351.875.253]. *46, ... XY Disorders of Sex Development [C12.706.316.096]. *Kallmann ... Disorders of Sex Development [C12.706.316]. *46, ... XY Disorders of Sex Development [C19.391.119.096]. *Kallmann ...
more infohttps://connects.catalyst.harvard.edu/Profiles/display/Concept/Kallmann%20Syndrome
  • therefore, the possibility that other genes or loci might play important roles in these disorders needs to be explored. (rbmb.net)
  • Only the genes coding for 5-alpha-reductase type 1 ( SRD5A1 ) and 5-alpha-reductase type 2 ( SRD5A2 ) are pertinent to the conversion of testosterone to DHT, whereas the gene coding 5-alpha-reductase type 3 is unrelated to any disorders of male sexual development, and may be implicated in a rare disorder of glycosylation. (medscape.com)
  • The early stages of testicular formation in the second month of gestation requires the action of several genes, of which one of the earliest and most important is SRY, the sex-determining region of the Y chromosome. (wikipedia.org)
  • Due to the inability of the streak gonads to produce sex hormones (both estrogens and androgens), most of the secondary sex characteristics do not develop. (wikipedia.org)
  • The biosynthesis of steroid hormones is a difficult process in which Cholesterol is transformed into mineralocorticoids, glucocorticoids and sex hormones via a series of hydroxylation, oxidation and reduction steps. (wikipathways.org)
  • Frasier syndrome is characterized by progressive nephropathy caused by focal segmental glomerulosclerosis, gonadoblastoma, and XY pseudohermaphroditism . (tripdatabase.com)
  • We aimed to further define the phenotypic and molecular spectrum of this newly described disorder.To minimise ascertainment bias, we recruited nine additional individuals with CDK13 pathogenic variants from clinical and research exome laboratory sequencing cohorts. (stanford.edu)
  • DSD constitutes a spectrum of disorders that affect the genito-urinary tract and the endocrine-reproductive system. (biomedcentral.com)
  • Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. (stanford.edu)
  • The natural products offer a great hope in the identification of bioactive lead compounds and their development into drugs for treating inflammatory diseases. (mdpi.com)
  • The objective of this study was to determine the aetiology of this group of disorders in the Hong Kong Chinese population. (hkmj.org)
  • We performed a prospective multicentre study to explore the possible aetiological basis of 46,XY DSD in the Hong Kong Chinese population. (hkmj.org)
  • In some disorders, there is an obvious diagnostic study. (clinicaladvisor.com)
  • It is important to be aware that sex steroids may change rapidly in the first days and weeks of life. (clinicaladvisor.com)
  • Affording the child the best opportunity for a healthy long-term psychosocial development is the foundation for recommendations of gender assignment. (medscape.com)