Introduction: Early puberty is defined in the girl by the appearance of secondary sexual characteristics before the age of 8 years. Unlike the boy, the central origin is most often idiopathic. The familial nature encourages looking for a genetic mutation which can explain this early maturation of the gonadotropic axis.
Cases: These are three girls from a consanguineous marriage. They had no particular pathological antecedents, including no similar cases in the family. The reason for consultation was an isolated breast development with a tanner stage was S3P1A1 in the three girls. And the average age of discovery was 5 years 3 months; the clinical examination was normal except a statural advance estimated at +2 SD to + 3SD with normal bone age. Hormonal exploration showed an average rate of estradiol at 16 pg /ml with extremes (8-25), FSH at 3.43 mUi/ml with extremes (2.3-4.4) and LH level at 0.63 mUi/ml with extremes (0.28-1.1). Pelvic ultrasound had objectified an enlarged uterus (40mm * 18mm * 14mm) with multiple follicular ovaries. Hypothalamic-pituitary MRI eliminated an organic cause. The central idiopathic origin of precocious puberty was therefore retained and the three girls were put on GnRH analogues with a good evolution and stability of their pubertal state.
Conclusion: Certainly the progress of molecular biology will be of great contribution to the understanding of the phenotypic variability as well as the atypical aspects of early puberty and especially in family cases as illustrated by our observation.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology