Background: Hypothalamic hamartomas (HH) are congenital morphogenetic defects frequently associated with central precocious puberty (CPP).
Objective and hypotheses: Data on the outcome of girls with CPP due to HH are limited.
Method: We report two patients with CPP caused by HH, one with normal fertility.
Results: Patient 1, now aged 33 years, was examined at age 15 months (vaginal bleeding, breast and pubic hair development since age 4 months). Pertinent studies disclosed CPP. MRI showed a lesion hanging in the interpendicular cistern (diameter: 8 mm). Cyproterone acetate was initially used, changed to GnRHa at age 4 years. Following GnRHa discontinuation (at 8.25 years), menses occurred regularly. She has normal mental development and no seizures. Her final height (FH) was 155 cm (TH 151±4.5 cm). Subsequent MRIs showed no changes until age 30 years when HH reduction was observed (diameter: 5 mm). She had three spontaneous pregnancies, the first and third one resulted in the birth of two normal children. Patient 2, now a 20-year-old college student, was examined at age 2.5 years (breast and pubic hair development and vaginal bleeding). Pertinent studies disclosed CPP. MRI showed HH in the tuber cinereum (15×10 mm). GnRHa was administered until age 9.75 years. Upon discontinuation, puberty progressed normally (menses at 11.5 years, occurring regularly within a year). Her FH was 157 cm (TH 163±4.5 cm). No seizures of any kind were observed. Her last MRI revealed HH size reduction.
Conclusion: Patients with HH not associated with seizures develop normally with appropriate GnRHa therapy (surgical therapy is not indicated). It seems that after discontinuation of GnRHa therapy, the hypothalamicpituitarygonadal axis recovers its normal tempo permitting regular menses and fertility. Diminution in the size of the hamartoma might be expected with age.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology