Endocrine Abstracts

JOINT1658

Introduction: Premature pubarche is defined as the development of pubic hair before the age of 8 in girls and 9 in boys. It is an expression of premature adrenarche, which refers to an early increase in adrenal androgen secretion, a phenomenon that normally precedes gonadal maturation by one to two years. Premature pubarche can be classified as idiopathic or due to underlying conditions such as adrenal hyperplasia or exposure to exogenous androgens.

Case Presentation: A 6-year-and-10-month-old girl was referred for the onset of secondary sexual characteristics, presenting with pubertal development P =(Tanner pubic hair stage) 2, B (Tanner breast stage) 1-2 on the left, B1 on the right. Laboratory tests showed prepubertal basal LH and increased DHEAS (82.00 μg/dl); FSH, cortisol, insulin, fT4, TSH, IGF-1, δ4-androstendione were within normal limits. ACTH stimulation test demonstrated normal 17-OH-progesterone levels. Pelvic ultrasound revealed a transitional-type uterus and ovarian volume at the upper limit for her age. GnRH stimulation test was performed showing prepubertal LH values (peak LH 3 mU/ml) without inversion of the FSH/LH ratio and in line with prepubertal estrogen levels (<5 pg/ml). Bone age was advanced (9 years and 6 months). Growth was between the 90th and 97th percentile above the genetic target, but when corrected for bone age, it fell within the genetic target range. After 6 months, the breast bud regressed and pelvic ultrasound confirmed a transitional-type uterus and ovarian volume at the upper limit for her age. At the next visit, the girl presented pubertal development P3 B2 on the right and B1 on the left. ACTH stimulation test and a triptorelin test were repeated and remained normal. Hormonal evaluations continued to indicate a prepubertal status and tumor markers (CA 19.9, CEA, CA125, alpha-fetoprotein) were negative, but an increase in DHEAS (140.00 μg/dl) was noted. Bone age remained advanced by 2 years. Based on clinical history, the diagnostic tests performed and the blood test results, a diagnosis of atypical premature pubarche was established.

Discussion and Conclusions: Unlike typical cases of premature pubarche, which often progress slowly without significant clinical consequences, atypical cases present with more pronounced signs of androgen excess, such as accelerated growth, acne, and advanced bone age. These patients may require extensive evaluation to rule out underlying conditions. Long-term follow-up is crucial to monitor potential metabolic or endocrine complications, including hyperandrogenism, polycystic ovary syndrome, and metabolic syndrome.