Πέμπτη 14 Ιουνίου 2018

Clitoromegaly: beyond testosterone

Description

A 9-year-old girl was presented for evaluation of clitoromegaly (figure 1). There was no evidence of adrenarche, thelarche or accelerated growth. The parents denied a history suggestive of adrenal crisis or progressive hyperpigmentation. On examination, there was clitoral enlargement (3x1 cm), a plexiform neuroma involving right labia majora (figure 1) and surrounding area of right buttock and thigh (figures 1 and 2) and multiple café au lait spots over the body, freckling over her palms (Patrick Yesudian sign) and axilla (Crowe sign) and a sacral dimple with overlying tuft of hair (figure 2). Investigations revealed 46XX karyotype as well as prepubertal luteinizing hormone (0.2 mIU/mL), follicle-stimulating hormone (1.5 mIU/mL) and testosterone (0.3 ng/mL) levels. The 17 hydroxyprogesterone levels (<0.1 ng/mL), cortisol (18.4 µg/dL) and thyroid function tests (T3=154.6 ng/dL, 10.2 µg/dL, thyroid stimulating hormone=5.3 µIU/mL) were normal. The diagnosis of neurofibromatosis (NF) was...



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