HERMAPHRODITISM

Tissues of both the ovaries and testes are present REF: Harrison’s 18^th ed chapter 349

True hermaphroditism is a medical term for an intersex condition in which an individual is born with ovarian and testicular tissue.

Pseudohermaphroditism, or pseudo-hermaphroditism, is the condition in which an organism is born with secondary sex characteristics or aphenotype that is different from what would be expected on the basis of the gonadal tissue (ovary or testis)

Ans is D. i.e. Congenital adrenal hyperplasia

• The most common cause of female pseudohermaphroditism is congenital (virilizing) adrenal hyperplasia (CVAH or CAH).
• Also called as Adrenogenital syndrome.
• Autosomal recessive disorders that disrupt adrenal steroidogenesis.
• In this disorder, there is a deficiency of an enzyme involved in the synthesis of cortisol, aldosterone, or both. 
• The most common form is due to 21-hydroxylase deficiency associated with mutations in the CYP21A2 gene which is located at chromosome 6p21, accounting for more than 90% of cases.
• In a female most common cause of ambiguous genitalia is congenital adrenal hyperplasia.
• Development of the internal genitalia (i.e. Mullerian duct and its derivatives) is normal in females with classical CAH. 

Ans. is A. i.e. Karyotype is 45 X0

Female pseudohermaphroditism refers to an individual with ovaries but with secondary sexual characteristics or external genitalia resembling those of a male.

• In female pseudohermaphroditism, the müllerian-inhibiting substance is not produced.
• Androgen exposure is excessive.
• The karyotype is 46 XX and ovaries are present. 
• If androgen levels increase earlier in embryonic development, more severe virilization can be seen.
• This includes the formation of labioscrotal folds; development of a urogenital sinus, in which the vagina empties into the posterior urethra; and development of a penile urethra with scrotal formation—the empty scrotum syndrome.

Most common cause of female pseudohermaphroditism is congenital adrenal hyperplasia mostly caused by deficiency of the enzyme 21 hydroxylase. Due to this enzyme deficiency, there is deficient production of adrenal cortisol and aldosterone and overproduction of adrenal androgens.

Ans. is ‘a’ i.e., 5-a reductase deficiency; ‘c’ i.e., 17 hydroxylase deficiency

Male pseudohermaphroditism

           Genotype is XY

          External genitalia are female

Causes of Male Pseudohermaphroditism

A. Defect in testicular differentiation

1. Deletion of short ann Y chromosome                       3. Mixed gonadal dysgenesis (MGD).
2. XY pure gonadal dysgenesis.                                  4. Dysgenetic male pseudohennaphroditism (DMP).

B. Defect in testicular hormone synthesis

1. Leydig cell aplasia

2. Inborn error of testosterone biosynthesis

i)    17-alpha hydroxyalse deficiency                      iv) 3 beta-hydroxy steroid dehydrogenase deficiency.

ii)     17-20 lyase deficiency                                       v) 20-22 desmolase deficiency

iii)      17-ketosteroid reductase deficiency.

C. Defect in mullerian inhibiting hormone action

D. Defect in androgen action

1. 5-alpha reductase deficiency                                4. Reifenstein syndrome
2. Testicular feminization syndrome                         5. Undertermined etiology
3. Incomplete testicular feminization syndrome

True hermaphroditism

Both ovarian and testicular tissues are present either in the same (ovotestis) or opposite gonads.

Ans. is ‘d’ i.e., Male pseudo hermephroditism

Congenital adrenal hvperplasia (CAH)

• Group of AR disorder
• MC adrenal disorder in childhood
• Most common 21-hydroxylase deficiency =There is elevated level of pregenolone, 17 -OH pergenelone DHEA and decreas level of progesterone, deoxycortisol,and estradiol so 21 hydroxylase deficiency causes female pseudoher­maphroditism.