Background: The annual worldwide incidence of childhood adrenocortical tumors (ACT) ranges from 0.3 to 0.38/million children below the age of 15 years. Only 12% of them are feminizing ACT occurring in prepubertal boys and presenting with gynecomastia that normalizes after tumor removal.
Case report: We present a case of a feminizing ACT. The boy was referred for bilateral gynecomastia, appeared 6 months before, at the chronological age (CA) of 7.5 years. Height was 139 cm (>97° ct), weight 27.5 kg (50°75° ct), Tanner stage 2 bilateral gynecomastia was present along with prepubertal testes of normal consistency. Baseline investigations showed normal blood count, electrolytes, liver, and renal function. Serum FT4, TSH, prolactin, and cortisol were normal; serum FSH, LH, and testosterone were within the prepubertal range. Serum levels of DHEAS and androstenedione were mildly increased: 221 μg/ml (<15120 μg/dl) and 3.08 ng/ml (0.090.31) respectively. Serum levels of estradiol were elevated: 56.6 pg/ml (prepubertal values <15 pg/ml). Abdominal ultrasound revealed the presence of a mass in the left adrenal gland. A transabdominal adrenalectomy was then performed. Histological examination of the surgical specimen showed an adrenal cortical adenoma with low malignant potential. Two months after surgery gynecomastia regressed and serum estradiol levels normalized. The ongoing follow up includes abdominal ultrasound and estradiol serum levels measurements.
Conclusion: Unlike pubertal gynecomastia, which is physiological and appears in about 60% of adolescents, prepubertal gynecomastia is a rare disorder that can be associated with severe underlying diseases as adrenal or testicular tumors. Since the behavior of ACT can be unpredictable and very aggressive, early diagnosis with thorough clinical and laboratory examination and surgical excision plays a key role in the management of these rare tumors.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology