No abstract

Thyroid function disorders represent the most frequently detected medical complication among patients with trisomy 21, with a reported prevalence ranging from 4-8% in childhood to 50% or more in adulthood. Over 1% of newborns with Down syndrome show clinical and/or biochemical signs consistent with congenital hypothyroidism, overall, promptly identified by means of the neonatal screening. The 30% of patients are diagnosed with transient congenital hypothyroidism, while 70% show a lifelong need for hormonal replacement therapy with levothyroxine. Afterwards, non-autoimmune subclinical hypothyroidism represents the most frequent finding, with reported prevalence ranging from 23 to 60%. It is still controversial whether subclinical hypothyroidism can be labelled as a pathological condition or represents the expression of a mere asymptomatic upwards shift of TSH, with no clinical impact. In addition, syndrome-related abnormalities in the mechanisms underlying immune tolerance result in a greater occurrence of autoimmune disorders. Graves’ disease and autoimmune hypothyroidism in the setting of Hashimoto thyroiditis are experienced by almost 30% of Down patients. Finally, it is not infrequent that the latter clinical picture switches into hyperthyroidism and vice versa, in an unpredictable clinical continuum. Given the increased lifelong risk of experiencing thyroid function disorders in children and adolescents with Down syndrome, a systematic periodic clinical and biochemical assessment is recommended, in order to promptly detect and eventually treat pathological conditions.

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.