A newborn with 46XX has external genitalia of male. All the following are the possible causes except:
The karyotype of the baby is 46 XX and external genitalia are of male, i.e. it is a case of female pseudohermaphroditism.
Causes of female pseudohermaphroditism are:
• Congenital adrenal hyperplasia. (M/C cause)
• Increased androgens in the mother which cross the placenta and cause virilization of the external genitalia. Like
maternal intake of androgenic drugs, maternal adrenal tumor, etc.
• Placental aromatase deficiency. Aromatase enzyme is responsible for conversion of testosterone to estradiol. If this enzyme is deficient there will be excess of testosterone.
• Wnt4 mutation. Wnt4 Mullerian aplasia is a disorder that occurs in females and affects their reproductive system. There is abnormal development of the Mullerian duct, and ovarian dysfunction so females have an underdeveloped or absent uterus and may also have abnormalities of other reproductive organs. Women with this condition have primary amenorrhea, normal breast and pubic hair development and higher than normal levels of androgens in their blood. These high levels of androgens cause acne, hirsutism and virilisation. Kidney abnormalities may also be present in some affected individuals.
Placental aromatase deficiency
Maternal androgen adrenal tumor
Anti mullerian hormone deficiency
Wnt 4 mutation