Introduction: Premature pubarche is defined as early appearance of pubic or axillary hair without any other signs of puberty, before 8 years of age in girls and 9 years in boys. We present the case of a 6 months old boy who came to us with scrotal hair since birth with moderate progression until present.
Case presentation: A 6 months old male patient was referred to our clinic to investigate the presence of thick scrotal hair, affirmatively present at birth, with moderate progression until now. He was a healthy, term newborn who was born to nonconsanguineous parents, and had appropriate weight and length. He had history of prolonged neonatal jaundice and G6PD deficiency. Physical examination showed an infant in good condition with normal psychomotor development, with long thick pubic hair on the scrotum, without hyperpigmentation or enlargement of the penis, both testis of 3 ml, normal height (−0,84SDS), and weight (p1025), with no apparent acceleration in growth rate. Blood tests showed low values of dehydroepiandrosterone sulfate (DHEA-S) and testosterone levels, normal plasma LH and FSH and borderline elevated 17-OH-progesterone: 1.96 ng/ml (RV: <1.7), but not high enough to justify ACTH-stimulation according to current guidelines. He had normal levels of ACTH and cortisol and negative/normal values of β HCG, AFP and CEA.
Conclusions: The hormonal parameters show a benign condition previously reported in infancy as isolated scrotal hair which is usually self-limited. Therefore, our patient needs careful monitoring to confirm this diagnosis.
18 - 21 May 2019
European Society of Endocrinology