ESPE Abstracts

Background: The frequency of makorin RING-finger protein 3 gene (MKRN3) mutations in Finnish patients with precocious puberty (PP) is not known. As a first step to investigate this, we describe the diagnoses underlying PP in a single academic center.

Objective and hypotheses: To review the diagnoses in children who were presented with signs of PP (adrenarche excluded) at the Helsinki University Hospital, with a special emphasis on the identification of familial cases.

Methods: In this retrospective chart review, we searched the hospital electronic patient records with ICD-10 codes for premature thelarche (PT), peripheral precocious puberty (PPP), organic central (OCPP), and idiopathic central precocious puberty (CPP) to identify children that had been evaluated for the clinical signs of puberty before the age of 8 years in girls and 9 years in boys.

Results: This study cohort contained (4/2016) more girls (n=69) than boys (n=4, P<0.05). The most frequent diagnoses were CPP (66% of the cases), PT (19%), OCPP (8%), and PPP (5%). In girls, the most common diagnosis was CPP (70%), and, in boys, OCPP (75%). Interestingly, 34% of patients with PP reported a positive family history for early puberty. Patients with CPP or OCPP had significantly higher basal LH, FSH, and GnRH-induced LH levels than those with PT or PPP (P<0.05). A brain MRI scan was performed in 48% of the patients of whom 20% showed an abnormal result.

Conclusion: In Finland, similarly as described in other European countries, idiopathic precocious puberty affects girls more often than boys, and a pathological cause in boys should always be suspected. We are currently gathering data on the familial cases for the MKRN3 substudy.