Endocrine Abstracts

8-year-old girl is referred to a Pediatric Endocrinologist for the appearance of thelarche, first noted at 6.5 years. She had a relevant clinical history of a neonatal meningitis, requiring prolonged hospitalization and the need for ventriculoperitoneal shunt. On physical examination, she had breast development and dark, coarse pubic hair compatible with Tanner stage 3. She weighed 32.3 kg (percentile – Pc- 75–90), her height was 128 cm (Pc 50) and her annual growth rate was 11 cm (> Pc 87). Clinical work-up was performed. Among the analytical study, evidence of central precocious puberty (CPP) was shown by an increase in gonadotropins and estradiol (LH 2.78 mUI/ml, FSH 3.58 mUI/ml, estradiol 53.7 pg/ml). The remaining analytical study showed no further alterations, namely a normal 17-hydroxyprogesterone value (17-OHP). The wrist X-ray revealed an advance of 3.5 years in bone age. The gynecological ultrasound showed characteristics compatible with the pubertal stage. Cerebral MRI revealed: ’Clastic area sequelae in the frontal region, correlating with antecedents. No other relevant lesions with a sure pathological significance in the rest of the brain parenchyma.’ She was diagnosed with CPP and treatment with triptorelin was started. Months later, the patient’s brother, aged 7 years and 9 months, is referred to a Pediatric Endocrinologist because of precocious pubarche. He had Wolff-Parkinson-White syndrome and no usual medication. On physical examination, he showed pubic hair compatible with a Tanner stage 2 and a testicular volume of about 2 ml. He weighed 25.5 kg (Pc 50–75), his height was 131.5 cm (Pc 75–90) and his annual growth rate was 7.9 cm (> Pc97). Among his clinical work-up, his high 17-OHP stood out (12.92 ng/ml), whilst gonadotropins’ and testosterone’ values were adequate for his age. His wrist X-ray showed a 2 years advance in bone age. The patient was diagnosed with non-classical congenital adrenal hyperplasia (CAH), treatment with hydrocortisone was initiated and genetic study is being performed. In view of the brother’s diagnosis, it was decided to perform the Synachten test on the girl. The final 17-OHP value was 3.95 ng/ml, excluding CAH. Although the sister was previously diagnosed with Central Precocious Puberty and the brother a Precocious Pubarche, it was hypothesized that the girl might have a Pseudo Precocious Puberty, taking into account the boy’s diagnosis. The coexistence of two different disorders with impact in puberty in the same family is noteworthy. The timely recognition and treatment of the different pathologies allowed a good clinical outcome.