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 gr/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.

The case of mini-puberty in a 6-month-old infant born preterm is described. The authors discuss the clinical differences of mini-puberty in term and preterm newborns.

An adrenocortical adenoma was diagnosed in a 4-year-old boy presenting with high growth rate, pubic hair and frequent penal erection.

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.