ESPE2021 ePoster Category 2 Sex differentiation, gonads and gynaecology or sex endocrinology (52 abstracts)
1Sirimavo Bandaranayaka Specialized Children's Hospital, Kandy, Sri Lanka; 2District General Hospital Nuwaraeliya, Nuwaraeliya, Sri Lanka
Background: Pre-pubertal gynecomastia is characterized by the presence of palpable breast tissue in boys in the absence of signs of sexual maturation. Gynecomastia is common in normal males in the neonatal period, at early puberty, and with increasing age and pre-pubertal gynecomastia is a rare condition and can be associated with excessive aromatase activity or oestrogen-producing adrenal or testicular tumours.
Case Presentation: A 3-year-old presented with left-sided gynecomastia of 6 months’ duration. He did not complain of headaches, visual disturbances or galactorrhoea. He was born at term with normal birth weight and had an uncomplicated perinatal period. His development was age-appropriate and his growth parameters followed birth centiles. He did not have a history of liver or renal disease and was not on long-term medications. His mother did not use oestrogen-containing anti-ageing creams or oral contraceptives. The height and weight were in the 3rd percentile. On examination, the child did not have Marfanoid features, eunuchoid body proportions or neurocutaneous manifestations. He did not have acne or hirsutism and his blood pressure was normal. He had breast stage III and I on left and right respectively. External genitalia examination was unremarkable with prepubertal testicles of normal consistency and absence of pubarche.
Results: Biochemistry revealed normal renal, liver and thyroid function tests. Prolactin was mildly raised 34.38 ng/ml, normal range 3.34 – 26.71) but had normalized when a month later. Basal gonadotrophins were prepubertal (FSH 0.63 IU/l, LH 0.17 IU/l) with detectable estradiol (40 pmol/l) and normal testosterone level (0.08 nmol/l, age-specific normal range 0.07-0.87). Repeated focussed ultrasound abdomen and testes by experienced paediatric radiologists did not reveal feminizing adrenocortical tumours or testicular masses or calcifications. Alpha-fetoprotein and beta-hCG levels were not elevated. Karyotype was 46, XX and did not demonstrate Klinefelter mosaicism.
Conclusion: Pre-pubertal gynecomastia is a rare condition and can herald sinister diseases warranting extensive investigations and repeated comprehensive evaluations.