Background: Gonadal hyperfunction is the most frequent endocrine dysfunction in females with McCuneAlbright syndrome (MAS), and precocious puberty (PP) is usually the first manifestation of MAS in children.
Objective and hypotheses: The optimal pharmacologic treatment of PP in girls with MAS has not been yet identified and new therapeutic options like anti-estrogen should be taken under consideration especially in patients with extreme high estradiol levels.
Results: We present a case report of a 2-year-old girl suffering from PP. She experienced her first episode of PP at the age of 26 months by the signs of estrogenisation, such as bilateral breast development with strongly pigmented nipples (Tanner 3), swelling of the labia minora and vaginal bleeding. Laboratory tests showed elevated estradiol levels (85 pg/ml) with a suppressed gonadotropin response after LHRH-stimulation (peak LH <0.5 mIU/ml; and peak FSH <0.37 mIU/ml). Bone age was appropriate for chronological age and pelvic ultrasound revealed cysts (predominant 17 mm ∅) in the right ovary, pubertal uterus and numerous small cysts in the left ovary. After 4 weeks the predominant cyst had regressed spontaneously and estradiol level decreased <20 pg/ml. Four months later, the girl experienced the first relapse of the PP. Large ovarian cyst was detected in the left ovary (32 mm ∅). Estradiol levels reached rarely recorded concentrations of 4487 pg/ml. The PCR analysis from ovarian tissue obtained during laparoscopy does not revealed the most common GNAS1 gene mutations (pR201C and pR201H). No other signs and symptoms associated with MAS were seen nevertheless, and atypical form of MAS cannot be excluded in our patient further genetic analyses are ongoing and the remaining regions of GNAS1 gene are being analysed. The fulvestrant in a dose of 2 mg/kg per month was initiated.
Conclusion: Effective and safe therapy of PP caused by MAS syndrome is needed and we do hope that fulvestrant may be such an option.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology