Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency

Raffin-Sanson et al. (2013) studied a family in which 3 male relatives were hemizygous for a nonsense mutation in the NR0B1 gene (W39X; see MOLECULAR GENETICS), with different adrenal consequences. The proband, 47 years old at the time of the report, had been diagnosed at age 19 years with adrenal insufficiency and with oligospermia at age 23. Evaluation at 32 years of age showed normal external genitalia, and he reported spontaneous onset of puberty at age 13, with normal virilization, growth spurt, and testicular growth. CT scan showed bilateral adrenal atrophy. Over 25 years of follow-up, his LH pulsatile secretion and testosterone level remained normal, consistent with LH-driven preservation of Leydig cell function. However, his sperm counts fell from 4 x 10(6) at age 23 to x 10(6) by age 37, and inhibin B (see 147290 ) levels also decreased, indicating impaired Sertoli cell function. He fathered 1 child by in vitro fertilization at age 33 and another by spontaneous conception 2 years later. Evaluation of the proband's younger brother at age 36 years revealed complete virilization with normal penile length and testicular volume, but low testosterone level and azoospermia. He also exhibited an abnormal cortisol response to the standard-dose cortrosyn test and was diagnosed with mild asymptomatic adrenal insufficiency. In addition, their sister gave birth to a boy who underwent adrenal crisis during the second week of life. All 3 patients carried the recurrent W39X mutation, which Raffin-Sanson et al. (2013) stated had previously been reported in patients with mild phenotypes.

Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency

congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency

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