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Disorders of Sexual Development

rationale behind learning about disorders of sexual development, provides background information for these two purposes... 1. determining sex for child rearing, 2. possibility of associated metabolic disorders that may be life threatening
when do you do investigation with DSD? ambiguous genitalia, apparent female with enlarged clitoris, posterior fusion of labia, inguinal/labial mass. apparent male with nonpalpable testes, hypospadias, family history of DSD
problems in these regions of the X chromosome can lead to disorders of sexual development pseudoautosomal region 1, androgen receptor
problems in these regions of the Y chromosome can lead to DSD pseudoautosomal region 1, SRY
46, XY DSD classification indicates what male pseudohermaphrodite, undervirilization of an XY male, undermasculinization of an XY male.
what are four causes of 46, XY DSD gonadal dysgenesis, diefect in biosynthesis of testosterone, 5alpha reductase deficiency, adrogen insensitivity
what is the most common cause of 46, XY DSD androgen insensitivity
define gonadal dysgenesis impairment of primordia of the fetal testes, mutations in genes driving formation of the gonad. There is not normal development of the testicular tissue.
list three categories of gonadal dysgenesis complete, partial, mixed
define complete gonadal dysgenesis total absence of functional testicular tissue
define partial gonadal dysgenesis partial abnormality of Leydig and Sertoli cell function during fetal development
define mixed gonadal dysgenesis one gonad: poorly developed testes associated with Wolfian duct structures, there is only a streak of the second gonad. ex: 45, XO/ 46,XY
what does leydig cell aplasia or hypoplasia mean with gonadal dysgenesis? they don't develop properly, can lead to the Leydig cells failing to respond to LH
what does inappropriate gene expression mean in terms of gonadal dysgenesis the genes SRY, SOX9, SF1, WT1, DHH are not properly expressed
how can defect in biosynthesis of testosterone occur? defect in any one of the enzymes/factors invovled in the synthesis of testosterone from cholesterol. can be complete (can also suffer from CAH) or partial (reduced activity of the enzymes)
what are three things that can happen with defect in biosynthesis of testosterone congenital micropenis w/o hypospadias, hypogonadotropnic hypogonadism, vanishing testes
describe congenital micropenis without hypospadias normal development of penis in early fetal life, but failure to elongate/grow in second and third trimesters
describe hypogonadotropic hypogonadism these are pituitary/hypothalamic disorders (i.e. Kallmans syndrome). The testes are unable to produce sufficient testosterone
describe vanishing testes gonadal dysgenesis
describe 5 alpha reductase deficiency inability to convert T to DHT, AR trait, defect in 5 alpha reductase type 2
range of enzyme activity in 5alpha reductase deficiency.. none to reduced
can those with 5alpha reductase deficiency have normal virilization at puberty? yes. there can be a change in gender identity, due to increased expression of 5alpha reductase type 1
describe androgen insensitivity defect in the androgen receptor, hundreds of lesions in AR listed in database
describe complete androgen insensitivity normal functioning testes, increase in LH at puberty drives T/E2 production, leads to feale secondary sex characteristics, formerly known as "testicular feminization syndrome"
describe partial androgen insensitivity wide spectrum of phenotypes, regarding masculinization. at puberty, virilization poor, gynecomastia is common. impaired sexual function in individuals raised as males
list causes of 46, XX DSD 1. abnormal gonadal development (ovotesticular DSD, aberrant gene expression, SRY+, SOX9 duplication), 2. abnormal fetal androgen production, 3. excess maternal androgen production, 4. deficiency in placental aromatase, 5. drugs taken during gestation
list causes of 46, XX DSD 1. abnormal gonadal development (ovotesticular DSD, aberrant gene expression with SRY+, SOX9 dup), 2. abnormal fetal androgen production,3. XS maternal androgen production, 4. deficiency in placental aromatase, 5. drugs taken during gestation
what is the funciton of Star protein, it allows cholesterol access from the outer mitochondrial membrane to the inner mitochrondrial membrane
what are two consequences of Star deficiency salt wasting, lipoid congenital adrenal hyperplasia
describe what happens in lipoid congenital adrenal hyperplasia cholesterol cannot enter mitochondrial membrane, so cholesterol lipid droplets accumulate in the cell. overtime, you have so much lipid in the cell that it disrupts the cellular function and cellular membrane. cell integrity is ruined.
list some consequences of lipoid CAH lack of steroid hormones leads to incr ACTh, LH, FSH, since no negative feedback is present, chol accumulates in steroid producing cells (lipid droplets), the continued increase in lipid w/i cells leads to disruption of cell, damaged cells become non-func
this is a cofactor for all microsomal P450 enzymes (17 alpha hydroxylase, 17,20 lyase, 21hydroxylase, aromatase). what is special about it? cytochrome P450 enzymes oxidoreductase enzymes. it was recently identified as a cause of 46, XX and 46, XY DSD (disrupted stoiroidogenesis)
this enzyme deficiency leads to hypertension CYP 17
this enzyme deficiency leads to salt wasting 3 beta HSD
this enzyme deficiency leads to hypertension CYP 11B1
this enzyme deficiency can lead to salt loss, or no salt loss, depending on how it presents. CYP21A2
this chromosomal configuration leads to normal ovarian organogenesis with excessive androgen eposure 46, XX DSD
what results form 46, XX DSD abnormal fetal androgen production (congenital adrenal hyperplasia), excess maternal androgen production (rare, newborn hormone levels normal), deficiency in placental aromatase (maternal virilization may occur during gestation)
in excess androgen exposure of 46, XX fetus, what is the presentation with exposure at greater than 12 weeks gestation clitoral enlargement
in androgen exposure o 46, XX fetus, what is the presentation with exposure to androgen at greater than 12 weeks gestation? abnormal development of urogenital sinus
in androgen exposure o 46, XX fetus, what is the result with androgen exposure << 12 weeks gestation? abnormal development of urogenital sinus with labio-scrotal area
in androgen exposure o 46, XX fetus, what is the result of androgen exposure <<< 12 weeks gestation formation of penile urethra in the individual, with abnormal development of urogenital sinus
this disorder is uncommon but should always be considered. the degree of testicular development dictates wolfifian duct development and Mullerian duct regression Ovotesticular DSD
what is the most prevalent ovotesticular DSD 46, XX
what are the different forms of ovotesticular DSD 46 XX, 46 XY, 46 XX, 46 XY mosaicism, Y to X translocations, Y to autosome translocation, mosaicism in gonads only, inactivation of X related gene that suppresses testicular development
list some DSD associated with congenital anomalies (can result from mutations, deletions, altered expression) WT1, Wnt4, SF1/DAX1
WT1 mutation results in what WAGR syndrome, Denys-Drash syndrome, Fraiser syndrome
Wnt4 mutation leads to what mental retardation
SF1/DAX1 mutation leads to what dysfunciton in adrenal, anterior pituitary, hypothalamus
what are the DSD associated with congenital abnormalities Klinefelters (47, XXY), Turners syndrome (45, X), Chimerism (46XX, 46XY)
this describes a male pseudohermaphrodite, can be caused by undervirilization of an XY male, or undermasculization of an XY male 46, XY DSD
this term describes a female pseudohermaphrodite. can be caused by overvirlization of an XY female, or masculanization of an XY female. 46 XX DSD
this describes a true hermaphrodite ovotesticular DSD
this describes an XX male or XX sex reversal 46 XX testicular DSD
this describes an XY sex reversal 46 XY complete gonadal dysgenesis
what is the number one cause for DSD in 46 XX? congenital adrenal hyperplasia
Created by: aferdo01