Macropenis in a Toddler

Abstract

A 21-month-old male was admitted to the endocrine clinic with the complaint of penis enlargement. He was born to nonconsanguineous parents after 38 weeks of uneventful gestation. His birth weight was 3600 g (0.4 standard deviation score [SDS]/67 th percentile). The remainder of his medical history was unremarkable. He had 1 healthy brother. On physical examination, his body weight was 16.5 kg (2.4 SDS/99.2 th percentile), height 97 cm (2.9 SDS/99.8 th percentile), and body mass index 17.5 (0.58 SDS/71 th percentile). His blood pressure was normal. The penile length was 7 cm, pubic hair was at Tanner stage 2, and testicular volume was 1 mL bilaterally. He had android fat distribution, increased muscle mass, facial acne, and deepening of the voice (Figure 1).Laboratory examination revealed markedly increased testosterone levels (>35 nmol/L) with suppressed follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels (0.08 and 0.06 mIU/mL, respectively). Dehydroepiandrostenedione sulfate (DHEA-S) and androstenedione were found to be increased (105 µg/dL and 1.72 µg/L, respectively). Blood count and other biochemistry were normal, except for serum alkaline phosphatase (557 U/L). Thyroid function tests were normal. His morning (7.30 am) serum cortisol level was 7.4 μg/ dL, and midnight (11 pm) serum cortisol level was 1.1 μg/dL. The circadian rhythm of cortisol was normal. His plasma adrenocorticotropic hormone (ACTH) was not suppressed (35 pg/mL). There was no hypercortisolism clinical symptoms. The bone age was 3.5 years according to the Greulich and Pyle method. Laboratory findings are shown in Table 1. Abdominal and scrotal ultrasound (US) were normal. Abdominal magnetic resonance image (MRI) showed a nodular lesion in the left adrenal gland (Figure 2). Final DiagnosisThe initial differential diagnoses list included precocious puberty, congenital adrenal hyperplasia, familial testotoxicosis, adrenocortical tumor (ACT), and testicular tumor. A final diagnosis of ACT and peripheral precocious puberty was made.