• Since regular menstruation reflects a properly functioning hypothalamic-pituitary-gonadal axis, a logical approach is to consider disorders based upon the levels of control of the menstrual cycle: uterus, ovary, pituitary, and hypothalamus. (medscape.com)
  • DSDs range from common disorders like cryptorchidism to very rare and complex conditions like complete XX or XY sex reversal. (e-apem.org)
  • 46,XY and 46,XX DSDs can be further subdivided into the subclasses of disorders of gonadal development, disorders of androgen biosynthesis and excess, and unclassified. (e-apem.org)
  • Adolescents with 46,XY disorders of sex development (DSD) face additional medical and psychological challenges. (biomedcentral.com)
  • Kallmann syndrome (KS) is a hypogonadotropic-hypogonadism disorder associated with olfactory disorders such as hyposmia or anosmia [ 1 ]. (panafrican-med-journal.com)
  • Disorders/differences in sex development (DSD) are defined as congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. (eurospe.org)
  • To identify the clinical characteristics of SRY -negative male patients and genes related to male sex reversal, we performed a retrospective study using cases of 46,XX testicular disorders of sex development with a review of the literature. (e-kjgm.org)
  • SRY -negative cases of 46,XX testicular disorders of sex development referred for cytogenetic analysis from 1983 to 2013 were examined using clinical findings, seminal analyses, basal hormone profiles, conventional cytogenetic analysis and polymerase chain reaction. (e-kjgm.org)
  • Chromosome analysis of cultured peripheral blood cells of 8,386 individuals found 19 cases (0.23%) with 46,XX testicular disorders of sex development. (e-kjgm.org)
  • We report three rare cases of SRY -negative 46,XX testicular disorders of sex development. (e-kjgm.org)
  • is seminiferous tubule dysgenesis associated with the 47,XXY karyotype, in which an extra X chromosome is acquired through maternal or, to a lesser extent, paternal meiotic nondisjunction. (msdmanuals.com)
  • The most common example of hypergonadotropic hypogonadism is found in Turner syndrome , which is caused by a 45,X karyotype. (medscape.com)
  • Gonadal dysgenesis is caused by a mosaic karyotype with an abnormal X chromosome, with loss of part of an X chromosome or translocation, or with a normal karyotype (46,XX) and streak ovaries. (medscape.com)
  • Individuals with Perrault syndrome have gonadal dysgenesis, a normal karyotype, and neurosensory deafness. (medscape.com)
  • Swyer syndrome is illustrated by a phenotypically immature female with a 46,XY karyotype without testis-determining factor on the Y chromosome and with failure to produce anti-müllerian hormone. (medscape.com)
  • Sex development starts with the initial setting of either a 46,XX or a 46,XY karyotype. (e-apem.org)
  • This karyotype can be associated with mixed gonadal dysgenesis in both boys and girls, depending on the tissue distribution of the 45,X and 46,X(r)Y cell lines. (juniperpublishers.com)
  • Patients with mosaic 45, X/46,X(r)Y karyotype, present with phenotypes ranging from females with Turner-like phenotypes, phenotypic males and females with mixed gonadal dysgenesis, to almost phenotypic normal males [ 4 , 5 ]. (juniperpublishers.com)
  • A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). (ctsicn.org)
  • This hypothalamic-pituitary-gonadal axis evolves throughout development, from fetal life through adulthood. (biomedcentral.com)
  • There are 3 types of hypogonadism: primary, secondary, and a type caused by defective androgen action, primarily due to defective androgen receptor activity. (msdmanuals.com)
  • 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)
  • The co-existence of mosaic KS with CAH due to 3β-HSD enzyme deficiency portrays a unique diagnostic paradox where features of gonadal androgen deficiency are masked by simultaneous adrenal androgen excess. (bioscientifica.com)
  • 46,XY DSD include defects in androgen synthesis or action or complete (CGD)/partial (PGD) gonadal dysgenesis. (eurospe.org)
  • In the next period, called sex determination (lasting from approximately 6 to 8 weeks of gestation), the bipotent gonadal anlagen eventually develops into ovarian or testicular cells. (e-apem.org)
  • Therefore, it appears evident that the assessment of gonadal function and the definition of male hypogonadism should rely on the understanding of normal testicular physiology resulting from the integrated function of the tubular and interstitial compartments, and its developmental changes from fetal life through maturity [ 5 ]. (biomedcentral.com)
  • Müllerian duct structures typically develop on the gonadal side not containing testicular tissue. (medscape.com)
  • Wolffian duct structures tend to be observed on the gonadal side containing functioning testicular tissue. (medscape.com)
  • 46,XX male sex reversal (also known as testicular DSD) is reported in 1:20,000 to 1:25,000 of newborn males [ 1 ], and is categorized using clinical phenotypes or molecular genetic analysis depending on the presence or absence of the SRY gene. (e-kjgm.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)
  • Sex development can be divided into three major components: chromosomal sex, gonadal sex, and phenotypic sex. (mhmedical.com)
  • 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)
  • Serum AMH is undetectable in patients with congenital or acquired anorchidism, or with complete gonadal dysgenesis. (biomedcentral.com)
  • In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. (bvsalud.org)
  • Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. (ctsicn.org)
  • A rare genetic disease characterized by a clinical picture of variable severity associating sensorineural hearing impairment with ovarian dysgenesis in females sometimes progressive neurologic disorder and exceptionally renal disease. (globalgenes.org)
  • These discrepancies can be manifested in different gonadal combinations, including ovotestis with ovary, ovary and testis, bilateral ovotestis, and ovotestis and tesis. (medscape.com)
  • Гіпогонадизм у чоловіків Hypogonadism is defined as testosterone deficiency with associated symptoms or signs, deficiency of spermatozoa production, or both. (msdmanuals.com)
  • 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)
  • Kurnaz E, Kartal Baykan E, Türkyılmaz A, Yaralı O, Yavaş Abalı Z, Turan S, Bereket A, Çayır A, Guran T. Genotypic Sex and Severity of the Disease Determine the Time of Clinical Presentation in Steroid 17α-Hydroxylase/17,20-Lyase Deficiency. (abdullahbereket.com)
  • According to the Chicago classification (2006), DSDs can be classified into 3 categories: sex chromosome DSDs, which include Turner syndrome and Klinefelter syndrome, as well as 45,X/46,XY and 46,XX/46,XY variants. (e-apem.org)
  • Disruptions to sex determining genes and transcription factors, or XX chromosome complement, typically leads to failure of Sertoli cell development. (eurospe.org)
  • These conditions may be caused by numerical or structural variations in sex chromosomes as well as autosomes, variations in genes involved in gonadal and/or genital development, and changes in gonadal and/or adrenal steroidogenesis. (e-apem.org)
  • 12 ] described the first two NR5A1 variants in individuals with 46,XY DSD who presented primary adrenal insufficiency and complete gonadal dysgenesis. (biomedcentral.com)
  • Gonadal dysgenesis fits the same pattern of high FSH and LH and low estradiol (E 2 ) levels. (medscape.com)
  • The aim of this study was to characterize the molecular genetic diagnosis of individuals with 46,XY DSD followed at Garrahan Pediatric Hospital.Medical records of 140 patients (P) followed. (eurospe.org)
  • 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. (bvsalud.org)
  • 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)
  • however, overtly ambiguous genitalia may occur in one in 4,500 live births, and complete XX or XY sex reversal with unequivocal male or female phenotype at birth is estimated to exist in one in 20,000 live births [ 2 ]. (e-apem.org)
  • 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)
  • 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)
  • Recurring supersecondary structures characterized by 20 amino acids folding into two alpha helices connected by a non-helical "loop" segment. (lookformedical.com)
  • Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. (nih.gov)
  • Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. (nih.gov)