Endocrine Abstracts

Introduction: Non-classical congenital adrenal hyperplasia (NCCAH) is considered to be a common monogenic inherited disease, with an incidence range from 1:500 to 1:100 births worldwide. NCCAH is often peri or post pubertal pauci or even asymptomatic. We report the case of a young girl with severe hirsutism and sexual ambiguity, despite late disclosure.

Observation: This is the case of a 16-year-old girl, with a history of menarche at the age of 14, presenting since puberty a spaniomenorrhea with rapidly worsening hirsutism. The clinical examination finds a normal height at 160 cm, a BMI at 21 kg/m², severe hirsutism scored at 33 according to Ferriman and Galway with signs of virilization and defeminization associating alopecia of the frontal gulfs, muscle hypertrophy, hoarseness tract, significant clitoral hypertrophy and breast atrophy. The biological assessment found elevated testosterone at 2.83 ng/ml, baseline 17OHP at 5.98 ng/ml, and 47.6 ng/ml after synacthen, normal plasma cortisol at 543 nmol/l, ACTH at 162 pg/ml. The abdominopelvic ultrasound objectified an aspect of micro polycystic ovaries. CT of the adrenal glands and pelvic MRI are without abnormalities. The diagnosis of NCCAH was retained. The patient was treated with cyproterone acetate and valerate of estradiol.

Discussion: Despite the high incidence, there is a low genotype-phenotype correlation, which explains why NCCAH diagnosis is usually delayed or even never carried out, since many patients remain asymptomatic or are misdiagnosed as suffering from other hyperandrogenic disorders.