Exaggerated mini-puberty in a preterm girl: a case report and review of literature.

OBJECTIVES: Mini-puberty is the physiological and transient activation of the hypothalamic-pituitary-gonadal axis occurring during the first months after birth. In preterm infants, the hormonal surge is more pronounced and longer-lasting than in at-term-peers. To date, only few cases of vaginal bleeding in the setting of an exaggerated mini-puberty have been reported. CASE PRESENTATION: At the corrected age of 3 months, an ex-very-preterm girl presented with breast enlargement and recurrent vaginal bleeding. A remarkable increase in gonadotropins and estradiol levels was detected, while pelvic ultrasound highlighted a large right ovarian cyst. As brain and pituitary MRI showed negative findings, an exaggerated mini-puberty was suspected and no additional investigations were undertaken. The subsequent progressive regression of clinical, biochemical and sonographic findings confirmed the diagnosis. CONCLUSIONS: Although exaggerated mini-puberty of infancy in ex-preterm girls is a rare event, it is important to raise knowledge of this para-physiological condition in order to avoid unnecessary investigations and treatment.

Serum anti-Müllerian hormone as a marker of ovarian reserve after cancer treatment and/or hematopoietic stem cell transplantation in childhood: proposal for a systematic approach to gonadal assessment.

OBJECTIVE: Female patients treated with alkylating agents in childhood are at risk for ovarian impairment. We aimed at describing the pattern of residual ovarian function in a cohort of survivors of hematological malignancies and/or hematopoietic stem cell transplantation (HSCT) and assessing the relationship between cyclophosphamide equivalent dose (CED) and anti-Müllerian hormone (AMH). DESIGN AND METHODS: Gonadal health was clinically and biochemically assessed in 124 post-menarchal survivors who underwent treatment for pediatric hematological malignancies and/or HSCT between 1992 and 2019. RESULTS: Overt 'premature ovarian insufficiency' (POI) was detected in 72.1 and 3.7% of transplanted and non-transplanted patients, respectively; milder 'diminished ovarian reserve' (DOR) in 16.3 and 22.2%. In non-transplanted patients, increasing CED values were associated with lower AMH-SDS (P = 0.04), with the threshold of 7200 g/m2 being the best discriminator between DOR/POI and normal ovarian function (AUC: 0.75 on ROC analysis) and with an observed decrease of 0.14 AMH-SDS for each CED increase of 1 g/m2. In addition, age at diagnosis ≥10 years played a detrimental role on ovarian reserve (P = 0.003). In the HSCT group, irradiation was associated with a statistically significant reduction in AMH-SDS (P = 0.04). CONCLUSIONS: In non-transplanted patients, CED ≥ 7200 mg/m2 was associated with a DOR, while younger age at diagnosis played a protective role on ovarian reserve. As a result of the data collected, we propose a systematic algorithm to assess iatrogenic gonadal impairment in young female patients exposed to chemo-radiotherapy in childhood for hematological disorders.