Genital 46 xx disorders of sex development. Medical search. Frequent questions

The effects of excessive androgens differ in fetuses with XX chromosome (female) and XY chromosomes (male). (wikipedia.org)
Within the spectrum of DSD, there are varying degrees of discordant genitalia to sex chromosomes. (medscape.com)
Sex" means the biological state of being female or male, based on sex organs, chromosomes, and endogenous hormone profiles. (legiscan.com)
Females have two X chromosomes (XX) in each cell. (targetwoman.com)
Two X chromosomes is medically written as Karyotype 46, XX. (targetwoman.com)
Chromosome 9 aberrations involving the terminal end of p arm, such as terminal p deletions or ring chromosomes have been reported to cause 46,XY DSD. (biomedcentral.com)
Humans have 46 chromosomes in each cell of their bodies, or 23 pairs. (choc.org)
The chromosomes are referenced as 46, XX, for a normal female or 46, XY, for a normal male. (choc.org)
Or a person may be born with mosaic genetics, so that some of her cells have XX chromosomes and some of them have XY. (damienmarieathope.com)
The term 46,XY refers to the chromosomes found in most cells of the fetus. (asu.edu)
Most cells have a total of 46 autosomes, or non-sex chromosomes, and a pair sex chromosomes, XX for genetic females, or XY for genetic males. (asu.edu)
These loci resided on chromosomes 13, 16, and 20. (frontiersin.org)
Child born with mosaic genetics, so that some cells have XX chromosomes and others have XY. (clinicalposters.com)
We are regarded by medicine as having a "Disorder of Sex Development", or DSD, which affects our genitals, gonads, or chromosomes. (intersexequality.com)

Individuals with congenital (inborn) discrepancy between sex chromosome, gonadal, and their internal and external genitalia are categorised as individuals with a disorder of sex development (DSD). (wikipedia.org)
In XX chromosome fetuses, excess androgens result in ambiguous genitalia. (wikipedia.org)
This includes sex chromosome DSDs such as Klinefelter syndrome, Turner syndrome and 45,X or 46,XY gonadal dysgenesis. (wikipedia.org)
PWS occurs due to abnormalities affecting certain genes in the proximal long arm of chromosome 15 when deleted from the father's chromosome 15 and hence referred to as a genomic imprinting disorder which depends on the sex of the parent donating the chromosome leading to the chromosome defect in the child. (rarediseases.org)
The Y chromosome helps make a boy as it contains the genes for the development of male organs like the testes and penis. (targetwoman.com)
In the absence of the Y chromosome, the fetal tissue in a female fetus (XX) will form the female sex organs - the ovaries, uterus and the fallopian tubes. (targetwoman.com)
The genetic sex refers to the sex chromosome, where XX stands for female, and XY, for male. (bvsalud.org)
Chromosome 9pter aberrations, such as ring chromosome have been reported to cause 46,XY disorders of sex development (DSD), due to involvement of DMRT1 gene located at the 9p24.3 region. (biomedcentral.com)
Sex reversal due to haploinsufficiency of DMRT1 gene in ring chromosome 9 structures is exceedingly rare with only a handful of cases ever reported. (biomedcentral.com)
Sex determination and development in males occurs during the embryonic period, and is initiated by the expression of SRY gene located on the short arm of the Y chromosome. (biomedcentral.com)
The sex chromosome combination, particularly the presence of a Y chromosome, triggers a male pattern of development while its absence promotes female development. (lidsen.com)
The 46,XY karyotype was detected with the GTG and CBG band technique and fluorescent in situ hybridization with the presence of the Y chromosome in 100% of the cells analyzed. (gob.mx)
The sex-determining region on the Y (SRY) gene located on the Y chromosome establishes the male phenotype. (uchicago.edu)
If the Y chromosome, SRY gene and TDF are absent (XX female), then the lack of testosterone and presence of maternal estrogens stimulate the development of female external genitalia. (uchicago.edu)

Thenceforth, our bodies develop down one of the two reproductive pathways - a female pathway, characterised typically by 46 XX karyotype, which influences sexual differentiation to support production of eggs, and a male pathway, characterised typically by 46 XY karyotype, which influences sexual differentiation to support production of sperm. (can-sg.org)
Human intersex is an organic phenomenon resulting from an imbalance between the factors and events responsible for sexual determination and differentiation, which takes place when an individual's body presents ambiguities, anomalies or inconsistencies in the biological components of his or her sexual identity, i.e., in his or her sex chromosomal, hormonal and/or morphological sex 2 . (bvsalud.org)
The major determinants of sex development can be divided into three components: chromosomal sex, gonadal sex (sex determination), and phenotypic sex (sex differentiation) ( Fig. 10-1 ) . (mhmedical.com)
This finding further highlights the importance of DMRT1 gene in sex determination and differentiation in males. (biomedcentral.com)
Therefore, DMRT1 is suggested to have an important role in sex differentiation. (biomedcentral.com)
At the Disorders of Sexual Differentiation Program, our team of specialists in pediatric endocrinology , genetics , social work , urology and psychology work with families to create the most ideal outcomes for their children. (choc.org)
Our Disorders of Sexual Differentiation Program team has been on the forefront of research in this area. (choc.org)
When a child's genitalia appears atypical at birth, the CHOC Center Urology Center Disorders of Sexual Differentiation Program team immediately becomes part of the child's care. (choc.org)
What are disorders of sexual differentiation? (choc.org)
Disorders of sex differentiation, also known as disorders of sexual development or DSD, are conditions in which the sexual development that occurs during fetal growth does not happen as it should. (choc.org)
A great proportion of 46,XY is caused by mutations in key transcription factors required for sex differentiation and androgen biosynthesis or action [ 2 ]. (biomedcentral.com)
Second, networks of genes and hormones regulate the advancement of sex determination and gonad differentiation, known as the gonadal sex phase. (lidsen.com)
An error during these developmental steps in females may lead to defective gonads, affecting the differentiation and/or function of the gonads and the development, differentiation, and maturity of the germ cells. (lidsen.com)
Male undermasculinisation is a disorder of sexual differentiation characterised by incompletely masculinised external genitalia in an individual with XY karyotype, bilateral testes, and male internal genital tracts. (bmj.com)

An XY is referred to as Karyotype 46, XY. (targetwoman.com)
This is a type of XX difference of sexual development (XX DSD) due to the presence of the SRY gene in an animal with an XX karyotype. (omia.org)
This study presents a unique case of a 12-year-old female with mos 46,XY, (r)9[31]/45,XY,-9[9] karyotype, presenting with intellectual disability and short stature, mimicking Turner syndrome. (biomedcentral.com)
Discordance between genital appearance and a prenatal karyotype. (uchicago.edu)
Diagnostic schemata recommend karyotype, pelvic ultrasound scan, testosterone, and dihydrotestosterone (DHT) concentrations with human chorionic gonadotropin (hCG) stimulation, gonadotrophin concentrations, and androgen receptor binding in genital skin fibroblasts. (bmj.com)

Ovotesticular disorder of sexual development, which was previously termed "intersex," describes disorders in which there is a discrepancy between a person's phenotype, genetic material, and gonads. (medscape.com)
Such gonads are found exclusively in people with ovotesticular disorder of sexual development (OT-DSD), formerly known as true hermaphroditism. (medscape.com)
The hormonal sex is determined through the gonads, testicles in men, and ovaries in women, as well as by other glands (pituitary and thyroid) responsible for male and female traits. (bvsalud.org)
After decades of controversy in the medical community over the procedures, the lack of centralized care standards allows doctors to continue operating on children's gonads, internal sex organs, and genitals when they are too young to participate in the decision, even though such surgery is dangerous and could be safely deferred. (hrw.org)
Doctors began recommending surgical solutions to the supposed "problem" of intersex traits-internal sex organs, genitalia, or gonads that do not match typical definitions of male and female. (hrw.org)
In the XX newborn, gonads are not palpable, which classically leads to the diagnosis of female pseudohermaphroditism. (health.am)
A 46,XY sex reversal syndrome is characterized by discordant genetic and phenotypic sex, leading to normal external female genitalia, undeveloped gonads and presence of Müllerian structures in an otherwise 46,XY individual. (biomedcentral.com)
During fetal development the tissue that eventually becomes the gonads (ovaries or testes) receives signals based on the child's genetics. (choc.org)
Although this level of plasticity is still found in the fully differentiated gonads, errors like mutations or epigenetic modifications impact ovarian development and, later, folliculogenesis, resulting in infertility. (lidsen.com)
A disorder of sex development (DSD) occurs when there is incongruence between a child's external genitalia, gonads (ovaries or testes) and chromosomal sex (XX - female or XY - male). (uchicago.edu)

While clitoromegaly is not usually harmful, some of the conditions that cause it can be, such as congenital adrenal hyperplasia , a genetic disorder that affects the adrenal glands. (womens-health.com)
Prader-Willi syndrome (PWS) is a genetic multisystem disorder characterized during infancy by lethargy, diminished muscle tone (hypotonia), a weak suck and feeding difficulties with poor weight gain and growth and other hormone deficiency. (rarediseases.org)
Often this requires input from a clinical geneticist or genetic counselor with experience in this genetic disorder to supply the most recent and accurate information about the disorder and discuss genetic testing options or treatment plans. (rarediseases.org)
However, because our genetic template is still either male or female, these anomalies or Disorders/Differences of Sex Development (DSDs) can only impair that template. (can-sg.org)
The biological elements involve genetic, hormonal and morphological sex aspects from which result in a person's physical configuration. (bvsalud.org)
13-15 Determination of gender using a person's genetic, hormonal and morphologic sex may be impaired if there is no psychological identification with the gender into which a person is categorized (psychological gender), or depending on the social acceptance of this person toward one of the genders (social gender). (bvsalud.org)
Genetic analysis of 38XX males with genital ambiguities and true hermaphrodites in pigs Animal Genetics 25:299-305, 1994. (omia.org)
Androgen Insensitivity Syndrome (AIS) is a human disorder in which an individual's genetic sex (genotype) differs from that individual's observable secondary sex characteristics (phenotypes). (asu.edu)
In mammals, the genotype first determines the sex in the genetic sex phase. (lidsen.com)
While the basic neuroanatomy of these connections is well-established, much remains unknown about how information is processed within innate circuits and how genetic hierarchies regulate development and function of these circuits. (frontiersin.org)

Development of male external genitalia: Genital tubercle forms the penis Urethral folds forms the urethra Genital swelling forms the scrotum On the other hand, if maternal placenta estrogen is present without DHT, then the development of female external genitalia occurs. (wikipedia.org)
Development of female external genitalia: Genital tubercle forms the clitoris Urethral folds forms the labia minora Genital swelling forms the labia majora However, in abnormal cases, sexual anomalies occur due to a variety of factors that lead to an excess of androgens in the fetus. (wikipedia.org)
Yet, the example of these two conditions only affect male genitalia, meaning there is no ambiguity over the boy's sex. (can-sg.org)
In more severe cases of Leydig cell hypoplasia, people with a typical male chromosomal pattern (46,XY) have female external genitalia. (medlineplus.gov)
They have normal female genitalia and normal breast and pubic hair development, but they may begin menstruation later than usual (after age 16) and have irregular menstrual periods. (medlineplus.gov)
A team of specialists conducts both a medical history and a physical examination of the child's external genitalia to make a diagnosis of the underlying cause of the disorder. (choc.org)
Atypical genitalia may make determining the child's sex more difficult. (choc.org)
Among an audito-rium of 2,000 U.S. citizens, 20 were born with "ambiguous genitalia. (clinicalposters.com)

Sex development can be divided into three major components: chromosomal sex, gonadal sex, and phenotypic sex. (mhmedical.com)
Disorders/differences of sex development ( DSD , also referred to as intersex) are congenital conditions in which chromosomal, gonadal or phenotypic sex are different from what is seen as typically male or female. (pediatricurologybook.com)

Variations at each of these stages can result in disorders (or differences) of sex development (DSDs) ( Table 10-1 ) . (mhmedical.com)
The medical community has changed its approach to intersex cases-which doctors often categorize as "Differences of Sex Development" or "DSD"-by establishing "DSD teams. (hrw.org)
Clinicians often typically use DSD and some overseas patient groups often use "Differences of Sex Development", but there's no challenge to the disordering when they communicate with each other using the same acronym. (intersexequality.com)

Congenital anomalies can also affect the development of the organs of the reproductive system. (can-sg.org)
The external sex organs in some of these people look intermediate between the typical vagina or penis . (targetwoman.com)
But there are instances when the midwife cannot determine the sex of the baby as the sex organs do not conform to defined norms of a male or a female. (targetwoman.com)
The baby is born with sex organs that aren't clearly male or female. (targetwoman.com)
A lack of testosterone interferes with the development of male reproductive organs before birth and the changes that appear at puberty. (medlineplus.gov)
Besides the SRY gene, certain hormones can influence the development of the sexual organs. (choc.org)
Absolute infertility is infertility associated with irreversible pathological changes in the genitals that exclude the possibility of conception (with the congenital absence of internal genital organs or their surgical removal). (clomid-info.com)
Under two percent of infants include atypical sex organs. (clinicalposters.com)
About 1% of U.S. infants are born with atypical sex organs. (clinicalposters.com)

Such disorders include partial or complete gonadal dysgenesis, ovotesticular DSD, testicular DSD and sex reversal. (wikipedia.org)
Duplication of DAX-1 results in XY sex reversal. (pediatricurologybook.com)
More research is required to pinpoint the exact mechanism that underlies sex reversal caused by DMRT1 haploinsufficiency. (biomedcentral.com)
XY sex reversal is a relatively rare type of DSD (disorder of sexual development). (biomedcentral.com)

DSDs caused by chromosomal variation generally do not present with genital ambiguity. (wikipedia.org)
In this condition of sexual ambiguity, the individual pseudohermaphrodite possesses gonadal tissue of one sex but exhibits external phenotype of the opposite sex. (targetwoman.com)

Other causes of congenital enlargement of the clit include a wide array of disorders of sex development (DSDs). (womens-health.com)
Multiple types of chromosomal DSDs can cause clitoromegaly in childhood and adolescence, including 46, XX and 46, XY. (womens-health.com)
Disturbances within the androgen receptor (AR) pathway frequently account for 46 XY-DSDs. (bvsalud.org)
Therefore, DSDs are said to be sex-specific (belonging to one or other sex). (can-sg.org)
Instead, DSDs should be used more specifically to denote those individuals for whom their sex may be difficult for a doctor to immediately observe, which only happens in approximately 0.02% of the population (Sax, 2002). (can-sg.org)

Patients with ovotesticular disorder of sexual development are individuals who have both ovarian and testicular tissue. (medscape.com)

The most common cause of congenital clitoromegaly is congenital adrenal hyperplasia (CAH), a disorder of the adrenal glands that can be serious and affects 1 in 10,000 to 16,000 people . (womens-health.com)
The most common disorders in newborns are congenital adrenal hyperplasia and mixed gonadal dysgenesis. (choc.org)
1 in 10 people with 46 XX,CAH Congenital Adrenal Hyperplasia, will be raised as women and go through infant clitorectomy - but change assignment later in life. (intersexequality.com)

If fetal tissues were to receive erroneous signals at an early stage, or fail to receive appropriate ones, reproductive development could halt, or attempt to proceed down the opposite sex pathway. (can-sg.org)
Sex development begins in utero but continues into young adulthood with the achievement of sexual maturity and reproductive capability. (mhmedical.com)
Endogenous estrogens are largely responsible for the development and maintenance of the female reproductive system and secondary sexual characteristics. (theodora.com)
Several animal experiments revealed the power of genetics and endocrines to structure males to show reproductive sex-typical female behaviours and to induce females to display as males. (ukia.co.uk)
Reproductive and sexual health1 is fundamental to individuals, couples and families, and the social and economic development of communities and nations. (who.int)
Concerned about the slow progress made in improving reproductive and sexual health over the past decade, and knowing that the international development goals would not be achieved without renewed commitment by the international community, the Fifty-fifth World Health Assembly adopted resolution WHA55.19 requesting WHO to develop a strategy for accelerating progress towards attainment of international development goals and targets related to reproductive health. (who.int)
Development Goals and other internationally agreed goals and targets relating to reproductive and sexual health. (who.int)
The development of the gonadal and reproductive tract (uterus and vagina in females, and seminal vesicles, prostate glands, and penis in males) starts around E10.5 in mice, and they are almost completely developed at birth. (lidsen.com)
While gender assignment previously hinged on the capacity for adequate reproductive potential in adulthood, this paradigm has been recently questioned due to a more nuanced understanding of psychosexual development. (uchicago.edu)

In pseudohermaphroditism the genital and sex determinations are discordant, for instance an apparently female individual may have testes, a male pseudohermaphrodite. (targetwoman.com)
Signs of possible chronic disease include an abrupt change in growth, undernutrition, discordant development (eg, pubic hair without breast development), or stalled pubertal development (ie, puberty starts then fails to progress). (msdmanuals.com)

In males, chorionic gonadotropin stimulates the development of cells in the testes called Leydig cells, and luteinizing hormone triggers these cells to produce androgens. (medlineplus.gov)
There were 25% (N=10) of males and 20% (N=10) of females who contracted COVID-19. (bvsalud.org)

The introitus is stenotic in some cases, but the internal genital structures (uterus, cervix, fallopian tubes, ovaries) are typically unaffected. (medscape.com)

Affected patients generally have normal genital development, yet are infertile and have small, poor functioning testes, breast growth and delayed puberty. (wikipedia.org)
METHODS A retrospective study of a register of cases of male undermasculinisation (20 with abnormal testes, eight with 5α-reductase deficiency, three with testosterone biosynthetic defects, seven with Drash syndrome, and 210 undiagnosed). (bmj.com)

Historically, when children with atypical sex characteristics were born in the United States, the people around them-parents and doctors-made their best guess and assigned the child a sex. (hrw.org)

Psychosexual development is influenced by numerous factors that include, but are not limited to, gender differences in brain structure, genes associated with sexual development, prenatal androgen exposure, interactions with family, and cultural and societal factors. (wikipedia.org)
A screening on a Next Generation Sequencing (NGS) panel of 11 genes involved in 46,XX disorder of sex development (DSD) revealed the heterozygous de novo WT1 nonsense variant NM_024426.4 c.1468C>T p. (acmcasereport.org)
Because we all develop from a single cell following fertilisation, many structures in our bodies start from one of three common precursor tissues (germ layers), which are then acted upon by different genes and enzymes to signal in which direction development, including sex development, will take place. (can-sg.org)
Figure 1 shows genes responsible for development of the undifferentiated gonad to either a testis or an ovary. (pediatricurologybook.com)
Primordial germ cells migrate to the gonadal ridge prior to 6 weeks and the infrastructure to support gonad development is further influenced by various genes. (pediatricurologybook.com)
Among those types of DMRT genes, DMRT1 is exclusively and highly expressed in the genital ridge and Sertoli cells [ 5 ]. (biomedcentral.com)
The basic ideas are that sex, genes, and hormones establish one's body and physiology, but one's gender is a product of learning, experience, and indoctrination. (ukia.co.uk)

What are Differences/Disorders of Sex Development (or intersex conditions)? (can-sg.org)

Oral lichen planus (OLP) is a common, chronic inflammatory dermatologic condition that often involves the skin, oral mucosa and/or genital mucosa. (jcda.ca)
Physical indicators may be present, such as bruises to the skin (eg, on the arms and legs from pinch marks or force), abrasions to wrists and ankles (eg, from tethering), bruises to the genital area and mucosa, oral palatal bruises and/or petechiae, and rectal abnormalities. (medscape.com)

Differences/disorders of sexual development (DSD) are classified into different categories: chromosomal variation, gonadal development disorders, abnormal genital development and others. (wikipedia.org)
Many patients with ovotesticular disorder of sexual development have a uterus. (medscape.com)
Objetivos: Avaliar os desfechos psicossexuais - IG, PG e OS - e aspectos da vida sexual em uma coorte de indivíduos com DDS 46,XY na idade adulta com diagnostico etiológico caracterizado do ponto de vista clínico e molecular e investigar a influência da exposição androgênica pré-natal e do grau de virilização da genitália externa nesses desfechos e na prevalência de disforia de gênero (DG). (usp.br)
No entanto, não houveram diferenças em relação aos parâmetros da vida sexual comparando indivíduos do sexo feminino com e sem atipia genital e indivíduos do sexo masculino que mantiveram o sexo social com os que mudaram para este sexo. (usp.br)
Leydig cell hypoplasia is a condition that affects male sexual development. (medlineplus.gov)
Leydig cells secrete male sex hormones (androgens) that are important for normal male sexual development before birth and during puberty. (medlineplus.gov)
Androgens, including testosterone, are the hormones that control male sexual development and reproduction. (medlineplus.gov)
Inspired by evolutionary theory, the preparation hypothesis has been forwarded to explain a common finding in sex research: that genital arousal in women can be automatically activated in response to a variety of sexual stimuli that are non-specific in terms of sexual attraction (Suschinsky & Lalumière, 2011 ). (springer.com)
Genital arousal would thus primarily serve a protective (i.e., avoidance-driven) function and unfold independently from subjective sexual arousal, which is more likely driven by a pleasure (i.e., approach-oriented) motivational focus. (springer.com)
The preparation hypothesis is unclear about the (evolutionary adaptive) function of subjective sexual arousal and how this relates to genital arousal. (springer.com)
It seems that the hypothesis is more strongly directed toward explaining low cue-specificity of genital vasocongestion, rather than explaining the weak correlation between different components of sexual arousal. (springer.com)
To answer this question, we need other theoretical models that examine the proximal determinants of genital arousal, its relation to other components of sexual responding, and its practical implications in terms of sexual function and well-being. (springer.com)
Information on STD prevention should be individualized on the basis of the patient's stage of development and understanding of sexual issues. (aafp.org)
One of the most reliable methods of avoiding STD transmission is abstinence from sexual relations, including oral, vaginal, and anal sex. (aafp.org)
Many of these children present to the emergency department (ED). The following article outlines triage determinants for examinations, examination techniques, and interpretations of genital findings of sexual abuse. (medscape.com)
Reactions to sexual abuse can include posttraumatic stress disorder, depression, anxiety, anger, impaired sense of self, dissociative phenomena, suicidal behavior, sexually reactive behaviors that are beyond the scope of normative child sexual development, and indiscriminate sexual behavior. (medscape.com)

2. Instill or create physiological or anatomical characteristics that resemble a sex different from an individual's biological sex, including without limitation (i) medical services that provide puberty-blocking drugs, cross-sex hormones, or other mechanisms to promote the development of feminizing or masculinizing features in the opposite biological sex or (ii) genital or nongenital gender reassignment surgery performed for the purpose of assisting an individual with a gender transition. (legiscan.com)
Selective Pituitary Hormone Deficiencies Selective deficiencies of pituitary hormones may represent an early stage in the development of more generalized hypopituitarism. (msdmanuals.com)

However, unsolved diagnosis and malignancy still represent difficulties in the sex determination of these patients. (wikipedia.org)
The sex hormone binding globulin suppression test using anabolic steroid is used in confirming the diagnosis. (targetwoman.com)
An estimated 2,000 babies are born 'intersex' each year, referring to a set of over 60 different conditions that fall under the diagnosis of 'DSD' (Differences/Disorders of Sex Development). (targetwoman.com)
Local penile factors and systemic diseases, including diabetes, cardiac disease, and neurologic disorders, can cause ED. Diagnosis is via physical exam and history. (lecturio.com)
History, examinations, and assistant examinations were available for clinical diagnosis of 46,XY DSD. (biomedcentral.com)
We implemented both approaches in parallel in the diagnosis of a Chinese adolescent with 46,XY DSD. (biomedcentral.com)
According to the medical history, physical examinations, karyotyping, gonadotropin levels test, and ultrasound examinations, it was not difficult to obtain clinical diagnosis as 46,XY DSD. (biomedcentral.com)

En ambas pacientes, se reporta ausencia de útero y ovarios, vagina hipoplásica y gónadas masculinas. (gob.mx)

Many of the anomalies encountered in pediatric urologic gynecology result from problems related to abnormal embryogenesis of the urinary and genital tracts. (medscape.com)
Cases included illustrate different causes of abnormal puberty as well as management strategies, including congenital anomalies, endocrine disorders, issues of constitutional delay, obesity, eating disorders, ovarian cancer and the effect of pharmacology, among others. (nshealth.ca)
In humans, abnormal development of aspects of innate behavior, most prominently circuits that regulate social behavior, appear to underlie disorders such as autism spectrum disorders and schizophrenia that are characterized by inappropriate or altered social interactions. (frontiersin.org)

Elaborating its molecular defects play an imperative role in understanding sex determination and development in the embryo. (biomedcentral.com)
In the last four decades, transgenic and knockout mouse models have helped to understand the mechanisms of mammalian sex determination, germ cell development, and adult gonad functions. (lidsen.com)
In this review, we focused on the molecular mechanisms of ovarian sex determination and on understanding mutual cross-talks between central molecules in sex development which might impact fertility later in adult life. (lidsen.com)

Congenital abnormalities commonly involve the urinary and genital tracts. (medscape.com)
The Department of Gastroenterology and Hepatology treats diseases occurring in gastrointestinal tracts, such as the esophagus, stomach, duodenum, small intestine, and large intestine, and deals with disorders involving the liver, biliary tract, or pancreas. (keio.ac.jp)
In humans, they may colonize the pharynx, skin, and gastrointestinal and female genital tracts ( 2 ). (cdc.gov)

These abnormalities usually result from random (sporadic) errors in egg or sperm development but are sometimes inherited. (rarediseases.org)
may have a range of genital abnormalities. (medlineplus.gov)

Six patients had recurrent bacteremia with two to four bacteremic episodes, five had chronic lymphatic disorders, and two had emm type stG 840.0 in every episode. (cdc.gov)
We describe an entity of recurrent GGS bacteremia, which is associated with lymphatic disorders and possibly with emm stG 840.0. (cdc.gov)
Low-risk types (e.g., types 6 and 11) can cause benign or low-grade cervical cell changes, genital warts, and recurrent respiratory papillomatosis ( 4 ). (cdc.gov)
Testing for herpes simplex virus serotype is advised in patients with genital infection, because recurrent infection is less likely with the type 1 serotype than with the type 2 serotype. (aafp.org)

Gonadal development disorders form a wide spectrum, classified by their cytogenetic and histopathological features. (wikipedia.org)
SF-1 and WT-1 have influence over gonadal development and subsequent endocrine communication to the Wolffian (mesonephric-blue) and Müllerian (paramesonephric-orange) ducts. (pediatricurologybook.com)
We described a novel NR5A1 variant and demonstrated its adverse effects on the functional integrity of the NR5A1 protein resulting in serious impairment of its modulation of gonadal development. (biomedcentral.com)
Nuclear receptor subfamily 5 group A member 1 ( NR5A1, also known as SF-1 , AD4BP and FTZF1 ) is a key transcription factor that determines gonadal development and regulates coordinates endocrine functions [ 9 ]. (biomedcentral.com)

This includes elongation of the genital tubercle to form the glans penis, fusing of labioscrotal swellings to become a scrotum, and midline fusion of the urethral folds to create an enclosed urethra within the penis. (uchicago.edu)

Some causes of an enlarged or swollen clitoris, such as vulvitis (genital irritation), may require medical treatment. (womens-health.com)
The genital tubercle becomes the clitoris, the unfused urethral folds become the labium minus, and the unfused labioscrotal swellings become the labium majus. (uchicago.edu)

Extensively revised and updated, Advanced Male Urethral and Genital Reconstructive Surgery, Second Edition guides urologists in a practical manner on how to evaluate and manage complex urethral and male genital reconstructive challenges. (nshealth.ca)
It is characterized by the resistance of target tissues to the action of testosterone, which prevents normal male genital development. (gob.mx)

The CHOC Urology Center is highly recognized in the realm of treating children with these disorders, both emotionally and physically, with extensive expertise in genital reconstructive surgery. (choc.org)

Courtesy of Cureus [De Jesus Escano MR, Mejia Sang ME, Reyes-Mugica M, Colaco M, Fox J. Ovotesticular Disorder of Sex Development: Approach and Management of an Index Case in the Dominican Republic. (medscape.com)
Online at https://www.cureus.com/articles/70052-ovotesticular-disorder-of-sex-development-approach-and-management-of-an-index-case-in-the-dominican-republic]. (medscape.com)

Degeneration and hyalinization of the seminiferous tubules with poor germ cell development is frequently observed. (medscape.com)
In all documented biopsied cases, there is a significant decline in germ cell development and an increase in tubular sclerosis by puberty. (medscape.com)

The presence of estradiol in developing ovarian follicles usually inhibits spermatogonia development in adjacent or contralateral seminiferous tubules. (medscape.com)
In this review, we highlighted some of the main gene networks and regulatory mechanisms involved in the plasticity of sex-determining pathways that help to establish a functional ovary that can nurture the follicles to generate a good ovarian reserve, both in quantity and quality. (lidsen.com)

The central question is: Do we actually need an evolutionary hypothesis to explain the function, underlying dynamics, and gender differences in genital arousal responding? (springer.com)
Freud, in his monumental works, distinguished the anatomic and physiologic sex of self from what we presently know as 'gender. (ukia.co.uk)
Even today, typical expectations are that the terms 'sex' and 'gender' reflect each other. (ukia.co.uk)
Intermediate, but less socially threatening, occasional blended-gender roles became more noticeable in the 1960s and gave increased prominence to distinguishing sex from gender. (ukia.co.uk)
It also was a time when Christine Jorgensen, an ex-G.I., went to Denmark to have a 'sex-change' operation and the world began to hear of individuals of one sex who wanted to change their bodies and adapt the gender of the other sex. (ukia.co.uk)
3 ] In the 1960s and 1970s, clinicians and theorists increasingly attended to sex-gender relationships, mostly to look at differences - rather than similarities - between men and women. (ukia.co.uk)
Stoller [ 7 ] coined the term 'core gender identity' to reflect a person's 'fundamental sense of belonging to one sex [an awareness of being male or female and] an over-all sense of identity. (ukia.co.uk)
12 , 13 ] For animals, the term 'sex-typical behaviour' was comparable to gender-appropriate behaviours. (ukia.co.uk)
An ongoing dispute appeared among psychotherapists, biologists, educators, and others about the forces that are involved in the development of gender and how those forces are influenced by the environment. (ukia.co.uk)
This medical consensus harkened back to the ideas that sex-atypical gender behaviours were the product of social and environmental forces. (ukia.co.uk)

Formation of the female genital tract also depends on the partition of the cloaca, first by the urorectal septum and then by the urogenital septum. (medscape.com)
In the normal prenatal stages of fetal development, the fetus is exposed to testosterone - albeit more in male fetuses than female ones. (wikipedia.org)
Through the many stages of sex development, if all is typical the fetus develops into a normal male or a female. (targetwoman.com)
Anatomical resources for either male or female development and variations are present in the early weeks of gestation ( Table 2 ) gonadal ridge, Wolffian (mesonephric) and Müllerian (paramesonephric) ducts, cloaca and subsequent urogenital sinus, genital tubercle and labioscrotal swellings. (pediatricurologybook.com)
Female sex, endocrine and immunological comorbidities, such as thyroid disease and diabetes, and psychological stress may play a role in the development of OLP in the Canadian population. (jcda.ca)
Therefore, we conducted a case study of a 46,XY female to better understand the genotypic and phenotypic characteristics related to 9p24.3 aberration and DMRT1 loss. (biomedcentral.com)
D. Sex: 1-male, 2-female. (cdc.gov)
An estimated 15% of couples meet this criterion and are considered infertile, with approximately 35% due to female factors alone, 30% due to male factors alone, 20% due to a combination of female and male factors, and 15% unexplained. (medscape.com)
During development the genitals are initially indifferent, as male and female morphology is not evident until the seventh week. (uchicago.edu)
B, D, F: female development. (uchicago.edu)
Compared to their respective counterparts, female service members, those less than 20 years old, and recruit trainees had higher overall incidence rates of exertional hyponatremia diagnoses. (health.mil)
support, history of female genital pregnancycare[3-5].Thecomponents Sample and setting mutilation(FGM),generalappear- ofanANCpackageshouldbedesigned ance,clinicalsignsofanaemia,signs tobeeffective,acceptableandofhigh The study population was pregnant ofphysicalabuse,breastexamination, qualitytogetherwithproperselection womenattendingPHCCsinMedina, thyroidexamination;varicoseveins ofclinicalexaminationsandlaboratory SaudiArabiaforANCoverthestudy examination.Scoreranges:history tests. (who.int)

This gene is associated with under-virilization in 46,XY patient. (acmcasereport.org)
Here we report a 46,XX case presenting with external genital virilization, diaphragmatic hernia and wilms tumor. (acmcasereport.org)

38(1): 16-20, 2023. (bvsalud.org)

Adolescents with 46,XY disorders of sex development (DSD) face additional medical and psychological challenges. (biomedcentral.com)
Compared with other age stages, adolescents with 46,XY DSD face additional medical and psychological challenges, which are particularly prominent and difficult for newly diagnosed adolescents [ 3 ]. (biomedcentral.com)

In boys, genital and/or pubic hair development are absent. (msdmanuals.com)

In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. (bvsalud.org)

Sometimes the term Variations in Sex Characteristics (VSC) is used, as is Disorders of Sex Development or Diverse Sex Development (DSD). (clinicalposters.com)

Reports on humans also showed that individuals who rejected their sex of rearing and experience were not rare. (ukia.co.uk)

The morphological sex refers to the appearance of internal and external genitals, whereby the presence of primary and secondary sex features must be analyzed to check for correspondences between them. (bvsalud.org)
People with this form of the disorder do not develop secondary sex characteristics, such as increased body hair, at puberty. (medlineplus.gov)

This happens around the 6th week of fetal development. (targetwoman.com)

15,19,20 Geographic differences exist in the prevalence, presentation and risk factors associated with development of OLP. (jcda.ca)

Stages of development of blockage in heart arteries (coronary plaque). (secondscount.org)

Both individuals with partial androgen insensitivity syndrome and individuals with complete androgen insensitivity syndrome have 46,XY karyotypes. (medscape.com)

It is considered to be a dysregulated T-cell-mediated disorder that occurs in response to exogenous triggers. (jcda.ca)

A fetus with AIS is genetically male with a 46,XY genotype. (asu.edu)

M proteins of GAS and GGS obtained from human infections have similar biologic, immunochemical, and structural features ( 20 ). (cdc.gov)

Anatomy2

Diseases13

Chemicals and Drugs4

Analytical, Diagnostic and Therapeutic Techniques and Equipment3

Psychiatry and Psychology8

Phenomena and Processes3

Named Groups1

Health Care1

Chromosomes14

Chromosome14

Differentiation14

Karyotype5

Gonads10

Genetic10

Genitalia8

Phenotypic sex2

Differences of sex3

Organs9

Reversal4

Ambiguity2

DSDs5

Testicular1

Congenital adrenal hyp3

Reproductive9

Discordant2

Males2

Internal genital1

Testes2

Atypical sex1

Genes7

Intersex conditions1

Mucosa2

Sexual16

Hormones2

Diagnosis7

Vagina1

Abnormal3

Determination3

Tracts3

Abnormalities2

Recurrent4

Gonadal development4

Urethra1

Clitoris2

Male genital2

Reconstructive surgery1

Ovotesticular2

Germ cell development2

Ovarian2

Gender10

Female12

Virilization2

20231

Adolescents2

Pubic hair development1

Anatomical1

Variations1

Humans1

Secondary2

Fetal development1

Prevalence1

Stages1

Complete androgen1

Occurs1

Genotype1

Biologic1