Polycystic ovaries and adrenal insufficiency in a young pubescent female with lipoid congenital adrenal hyperplasia due to splice mutation of the StAR gene: a case report and review of the literature.

We report a case of Lipoid Congenital Adrenal Hyperplasia (LCAH) secondary to Steroidogenic Acute Regulatory (StAR) gene mutation in an adolescent female with bilateral ovarian cysts. StAR gene defects follow an autosomal recessive mode of inheritance and typically present with severe adrenal insufficiency during infancy. Both sexes can be affected equally. XY males often present with sex reversal, while XX females may develop gonadal failure later in life due to premature loss of ovarian follicles. Recently there have been reported cases of successful fertility outcomes in women with LCAH. In our case report, we describe the clinical, biochemical and molecular analysis of a 16 year-old XX adolescent female who was suspected of having LCAH upon discovery of bilateral ovarian cysts in the context of adrenal insufficiency. Examination of the StAR gene revealed a homozygous splice site mutation. The patient is currently undergoing estradiol therapy to suppress ovarian cyst formation.

Sexual precocity in a 2-year-old boy caused by indirect exposure to testosterone cream.

OBJECTIVE: To report a rare case of sexual precocity caused by inadvertent exposure to testosterone cream. METHODS: We report the clinical, laboratory, and radiologic findings of a boy presenting with sexual precocity; review short- and long-term consequences; and discuss preventative measures. RESULTS: A 2 and 7/12-year-old boy had onset of pubic hair without testicular enlargement and a period of rapid linear growth. History revealed possible topical testosterone exposure from close contact with the child's father. On physical examination, the boy had Tanner stage II pubic hair distribution. Laboratory evaluation findings were normal for age except for the testosterone concentration, which was comparable to late-pubertal and adult male levels at 371 ng/dL (reference range, <3-10 ng/dL for prepubertal male). Brain magnetic resonance imaging and testicular ultrasonography were normal. Skeletal age was advanced at age 4 and 6/12 years. Repeated laboratory evaluation, after the child's father ceased testosterone use, revealed a normal testosterone concentration of 10 ng/dL. Thus, this boy's sexual precocity was attributed to inadvertent exogenous androgen exposure. CONCLUSIONS: When examining a child with sexual precocity, asking about possible exposure to androgens and estrogens is important. Patients being treated with these products should be educated about the possible risks of testosterone exposure to others and ways to limit exposure.