Endocrine Abstracts

Introduction: Precocious puberty (PP) is a rare pathology involving approximatively 0.2% of girls and less than 0.05% of boys and is defined as the appearance of secondary sex characteristics before 8 years of age in girls and before 9 years of age in boys. We report an unusual case of a patient who presents a precocious puberty associated to a primary adrenal insufficiency.

Case presentation: We describe a case of a 7-year and 4 months old girl referred for a precocious puberty. In fact, her mother reports breast enlargement since the age of 5 years but she only consulted when she had her menarche 2 months ago. Her medical history was uneventful. Her mother had her own menarche at the age of 11. Physical examination displayed a girl with weight at 33 kg (<-2 [standard derivation] DS), height at 137 cm (>+3 [standard derivation] DS). Her statural age was 10 years and a half. The patient presented an elevated Areola above contour of the breast with development of the overall breast tissue (Tanner stage S4) and her pubic hair was adult in type (Tanner stage P4). Bone Age according to Greulich and Pyle atlas was 11 years. Pelvic ultrasound revealed a uterine long axis of 39 mm, thickness of the uterine endometrium of 6mm, follicular ovaries without ovarian cysts nor pelvic mass. Endocrine analysis showed high estrogen value: 25,5 pg/ml and high basal luteinizing hormone (LH) : 5,98 UI/l (> 5 UI/l), suggesting a central precocious puberty. The pituitary magnetic resonance imaging showed homogeneous hyperplasia of the anterior pituitary gland without sellar ou suprasellar tumor. The evaluation of the other pituitary axes showed a normal thyroid function test (FT4 : 11,3 pmol/l and TSH : 1,75 uUI/ml), and a low cortisol level 66 nmol/l concomitant to an ACTH level: 98 pg/ml. The patient received hydrocortisone. A treatment by GnRH agonist was started and a genetic investigation is now being undertaken.

Conclusion: Central PP is due to a premature activation of the hypothalamic-pituitary-gonadal axis. It can be attributable to cerebral congenital malformations or acquired insults, but the cause in about 90% of cases in girls is idiopathic. Rare cases of PP associated to adrenal insufficiency were reported in the literature. It seems to be related to a stop loss DAX1 variant.