ESPE Abstracts

Background: Delayed puberty (DP) is generally considered a benign condition. We investigated the diagnoses underlying DP and its outcome predictors.Objective: A retrospective chart review which included clinical and biochemical data of 174 boys and 70 girls evaluated for DP in a single tertiary care center between 2004 and 2014.Results: Thirty etiologies that underlie DP were identified. No markers of clinical value could be identi...

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 fa...

Background: Cryptorchidism is a risk factor for testicular cancer and poor semen quality. The incidence of cryptorchidism has been lower in Finland than in the other Nordic countries.Objective and hypotheses: We focused to investigate the recent trends in the incidence of undescended testes in the Helsinki area. In addition, we evaluated the age at orchidopexy before and after the release of the Nordic consensus in 2007 recommending operation between 6 a...

Background: Congenital hypogonadotropic hypogonadism (CHH) provides a model to study the impact of sex steroid deficiency on childhood growth.Aims and objectives: We characterised growth patterns in male CHH patients with special emphasis on growth during the minipuberty of infancy.Methods: Growth charts of 38 men with CHH (28 from Finland and 10 from Denmark) were evaluated. Fifteen (39%) patients had representative length measure...

Background: Most comprehensive guidelines on tall stature suggest that extremely tall children (defined as height above +3 SDS) should be referred to specialized health care for comprehensive diagnostic work-up. However, currently the etiology of tall stature is poorly characterized and no systematic studies focusing on extreme tall stature exist.Methods: We identified all subjects with height above +3 SDS after the age ...

Objective: The influence of androgens and estrogens on growth is complex, and understanding their relative roles is important for optimizing the treatment of children with various disorders of growth and puberty.Design: We examined the proportional roles of androgens and estrogens in the regulation of pubertal growth in boys with constitutional delay of growth and puberty (CDGP). The study compared 6-month low-dose intramuscular testoste...

Patients who suffer from congenital hypopituitarism display a wide spectrum of phenotypes including pituitary hormone deficiencies and, in some cases, additional extrapituitary manifestations depending on the causative gene. A group of genes underlying hypopituitarism has been identified, yet several of them remain unknown. Here, we identified compound heterozygous variants in the TBC1D32 gene, c.1165_1166dupGT, p.(Gln390Phefs*32) and c.2151delA, p.(Lys717Asnfs*29) in...