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Objective:To explain how genetic males and females with normally functioning gonads can have the genitalia and secondary sex characteristics of the opposite sex.
Male Pseudohermaphroditism -What are the consequences of deficient androgen synthesis/action on differenti-ation and development of the male reproductive tract/sex accessory tissues? -Deficiencies in which steroid biosynthetic enzymes would result in ambiguous external genitalia and male pseudohermaphroditism? -What are the consequences of deficient testosterone in the fetus/at puberty? -What is the most common cause of a deficiency of androgen action? -What are the consequences of deficient androgen action in males/females? -What are the consequences during fetal development and at puberty of an inability to convert testosterone to dihydrotestosterone?Female Pseudohermaphroditism -Deficiencies of which steroid biosynthetic enzymes in the adrenal cortex result in overproduction of androgens? -What are the five most common deficiencies of steroid biosynthetic enzymes? -What are the consequences of exposure to excess androgens on the reproductive tracts and external genitalia of females? -What are the consequences of steroid biosynthetic enzyme deficiencies on water and electrolyte balance?
Male pseudohermaphrodites experienced diminished secondary sexual development and feminization at puberty due to the unopposed effects of estrogens. Male pseudo hermaphrodites are 46 XY. Androgen deficiency, Plasma levels of LH are elevated due to lack of negative feedback but FSH levels are normal due to appropriate inhibin production. Deficient androgen formation.Defects in androgen action. 5 alpha reductase activity. Male pseudohermaphrodite are poorly masculinized at birth.
Four different enzyme defects in the synthesis of testosterone commonly result in male pseudohermaphroditism. Three of the defects involve enzymes that are also required for cortisol biosynthesis in the adrenal and, thus, are associated with congenital adrenal hyperplasia without androgen excess. These are P450 side-chain cleavage, 3 beta-hydroxysteroid dehydrogenase, and 17 alpha-hydroxylase.A 4th enzyme, which affects only gonadal steroidogenesis is 17 beta-hydroxysteroid dehydrogenase. Expected features of a complete inability to synthesize androgens include bilateral testes, female external don't know genitalia with a blindly ending vagina, breast development to tanner stage 3 and feminization at puberty due to the effects of estrogen, normal statual growth and body proportions, sparse pubic and axillary hair with normal scalp hair, deficient androgen production, elevated plasma levels of LH due to lack of negative feedback, normal FSH levels due to appropriate inhibiting production and lack of female internal genitalia because affected individuals do make normal amounts of mullerian inhibiting hormone. The diagnosis of a defect in androgen biosynthesis can be made by measuring 17 alpha-hydroxy progesterone in serum or its metabolite pregnane triol in urine. Males with 17 beta-hydroxysteroid dehydrogenase deficiency generally have ambiguous genitalia but virulization often does occur at puberty.
Bilateral testes, female external genitalia, a blindly ending vagina and no mullerian derivatives. Breast development to tanner stage 3. Statural growth and body proportions are normal. Pubic and axillary hair are sparse but scalp hair is normal. Lack of female internal genitalia, which develop from Mullerian derivatives, because these individuals make normal amounts of Mullerian inhibiting hormone or MIH.They have normal levels of androgens but they do not respond to androgens.
In Big us poorly developed male genitalia at birth but otherwise develop as normal males. At puberty undergo a perilous action with folic enlargement increased facial hair muscular hypertrophy deepening of the voice and no breast development the structures that develop from the wharf in docs including the seminal vesicles a jacket a Tory docs epidemy is an vast Efron's develop normally as male However the structures that develop from the aura genital sinus and your genital trigger call fold and swelling such as the prostate your rethread penis and scrotum are female in nature because they develop under the influence of dye hydro to start her own which cannot be formed normally in patients with 5 Alfre a doctor's deficiency. Partial male secondary sexual characteristics developed at puberty due to the partial activity of testosterone in the affected tissues adult males with this disorder have impaired development and function of the prostate and seminal vesicles that results in viscous semen of small volume sperm counts can be normal however.
Normal ovaries. Genetic females with a 46 XX karyotype. Individuals with excess androgen production due to the various syndromes of congenital adrenal hyperplasia beginning in utero exhibit virilization or masculinization of the external genitalia at birth. Most commonly the various syndromes of congenital adrenal hyperplasia due to cortisol insufficiency including 21 hydroxylase deficiency and 11 hydroxylase deficiency.Masculinized external genitalia including enlargement of the clitoris.
Diagnosis of P450 C 21 or 21 hydroxylase deficiency can be made on the basis of elevated 17 Keto steroids such as DHEAS In the urine. P450 C 21 deficiency is the most common cause of congenital adrenal hyperplasia it occurs in about one in 5000 Caucasians with a carrier frequency of 1 in 35.It is particularly common in Eskimos. It varies in severity from partial to almost complete absence of the 21 hydroxyl ase enzyme and results in impaired cortisol production and excess androgen production. Virualization in utero results in genital ambiguity manifest as an enlarged phallus or clitoral hypertrophy and fusion of the labio with a common urogenital sinus into which both the bladder and the uterus empty. Untreated the excess androgen will cause excessive long bone growth sexual precocity, hirsutism and acne. Affected individuals do not feminized at puberty usually have no breast development at puberty and are not menstruate. Treatment consists of Gluco corticoid replacement.
Clinically affected females present with virilization and hypertension. Virilization is manifests as rapid sematic growth initially by early closure of the epiphyses, phallic enlargement, premature appearance of pubic and axillary hair, breast hypoplasia and amenorrhea, all symptoms similar to 21-hydroxylase deficiency. P 450 C11 deficiency is a relatively uncommon form of congenital adrenal hyperplasia, accounting only for about 5 percent of the cases.It is more common in Jews of North African origin than in other ethnic groups. Deficient in cortisol. Treatment consists of Glucocorticoid replacement. Affected females have hypertension due to excess production of deoxycorticosterone.