Sex Development
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Sex Development conditions
5α-Reductase Deficiency5α-Reductase Deficiency is a genetic disorder causing impaired conversion of testosterone to dihydrotestosterone, leading to undervirilized genitalia in genetic males.46,XX DSD (Disorder of Sex Development)46,XX DSD involves atypical development of chromosomal females with virilization due to androgen excess, often from congenital adrenal hyperplasia or enzyme defects.46,XY DSD (Disorder of Sex Development)46,XY DSD involves atypical sexual development due to disruptions in androgen synthesis or action, often presenting with undervirilized genitalia in genetic males.Androgen Insensitivity Syndrome in Genotypic MaleAndrogen Insensitivity Syndrome in genotypic males causes resistance to androgens, leading to female external genitalia despite XY chromosomes and normal testes.Aromatase DeficiencyAromatase deficiency is a rare genetic disorder causing impaired estrogen synthesis, leading to ambiguous genitalia in females and delayed puberty in both sexes.Complete Androgen Insensitivity SyndromeComplete Androgen Insensitivity Syndrome is a genetic condition where individuals with XY chromosomes are resistant to androgens, leading to female external genitalia despite a male karyotype.Double Y Males (47,XYY)Double Y Males (47,XYY) have an extra Y chromosome causing tall stature and sometimes learning difficulties, with normal fertility and testosterone levels.Hypogonadotropic (Secondary) Hypogonadism in Genotypic FemaleHypogonadotropic secondary hypogonadism in genotypic females involves low GnRH or gonadotropins causing impaired ovarian function and delayed puberty or amenorrhea.Kallmann SyndromeKallmann Syndrome is a genetic disorder causing delayed or absent puberty and impaired sense of smell due to defective migration of GnRH neurons and olfactory bulbs.Klinefelter Syndrome (47,XXY)Klinefelter Syndrome (47,XXY) is a genetic condition causing hypogonadism and infertility due to an extra X chromosome in males, often identified by elevated FSH levels.Ovotesticular DSDOvotesticular DSD is a rare disorder of sex development characterized by the presence of both ovarian and testicular tissue, often causing ambiguous genitalia.Turner Syndrome (45,XO)Turner Syndrome 45,XO is a chromosomal disorder in females caused by complete or partial absence of one X chromosome, leading to short stature and gonadal dysgenesis.