Late-onset congenital adrenal hyperplasia or early-onset PCO
Hirsutism and virilization are effects of hyperandrogenism by ovaries and adrenal glands. It has a marked psychological and social impact affecting the quality of life; 75% of premenarchal girl have hyperandrogenism, which is due to PCOS but late-onset congenital adrenal hyperplasia cannot be ruled out, and this leaves the clinician in quandary regarding the diagnosis and management.

Published in the Journal of South Asian Federation of Obstetrics and Gynaecology, the authors present a challenging case of differentiating nonclassical congenital adrenal hyperplasia (NCAH) from polycystic ovarian syndrome (PCOS) in a 13-year-old girl.

A 13½-year-old girl presented with excessive facial hair, hoarseness of voice, and darkening of elbow pits since past 2 months, which was increasing in severity. The patient had not yet attained menarche but had pubarche 1 year back.

Examination revealed presence of acanthosis, underdeveloped breasts, and clitoromegaly >3 cm. Levels of 17-hydroxyprogesterone were normal but higher levels were reported poststimulation. Fasting insulin levels were also high. Appropriate treatment was started, which led to improvement in patient's symptoms.

Considering history, examination, and investigations, a provisional diagnosis of early-onset PCOS was made but dilemma arose speculating severity of hirsutism, clitoromegaly, and raised levels of 17-OH progesterone poststimulation.

Also, presence of insulin resistance falls in favor of PCOS but normal levels of LH and FSH fall against it. On enquiring about presence of ambiguous genitalia at birth, her parents reported it to be normal. Thus, taking into consideration all the above facts, final diagnosis of NCAH was made.

Learning Points:-
• Thus, there is significant overlapping between PCOS and NCAH that warrants accurate diagnosis based on hormonal analysis to institute early and appropriate therapy.

• Early therapy can prevent infertility and androgenic complications later in life.

Read in detail about the case here: https://pxmd.co/N7EcQ
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