Background: Gonadal dysgenesis may be rarely associated with precocious puberty (PP) and development of gonadoblastoma. In these patients cases of peripheral PP have been reported. On the contrary, a central PP has been very rarely described.
Objective and hypotheses: To describe a female with central PP associated with a bilateral gonadoblastoma.
Results: A 8 year and 5 month old phenotypically female child, presenting suspected PP was remitted to our attention. Clinical examination revealed a B3 AH2 PH3-4 Tanner stage associated with the development of a mild clitoris hypertrophy in the last months; bone age was advanced (18 months); no evidence of dismorphic features. The height was 129.3 cm (50 th centile), weight 39.400 Kg (90 th centile), BMI 23.27 (>97 th centile). Pelvic ecography showed pre-puberal gonads and uterus. Routine blood examimations revealed normal levels of CEA, hCG, αFetoprotein, ACTH, 17-OH-Progesterone, Aldosterone, Renin, DHEA-S, Δ4-Androstenedione, and 17β-Estradiol. However, Testosterone was very high (233 ng/dl). GnRH test showed very high levels of LH and FSH. Finally, MRI showed apparently normal gonads and hypoplasic uterus. Karyoptype was 45,X/46,XY(50%/50%). An explorative videolaparoscopy disclosed a hypoplasic uterus, right monolateral fallopian tube and left epididymis. The histological evaluation of the gonads showed the presence of a bilateral gonadoblastoma. So, the patient carried out a bilateral salpigogonadectomy.
Conclusion: Our case emphasizes the importance of taking into account among the different causes of PP the possibility of steroid hormone secreting tumors and, at the same time, to find the phenotypic characteristics that may make us assume a more complex etiology of the clinical picture.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology