ESPE Abstracts

Background: One of the main concerns in patients with growth disorders is to achieve optimal adherence to growth hormone (GH) treatment. For this it is important to identify patients with low adherence to treatment and to evaluate actions to improve it.The Merck Patient Support Program (PSP) carried out educational actions aimed at patients with low adherence and their parents, to raise their awareness of the importance of good adherence...

Background: Isolated aldosterone synthase deficiency is a rare autosomal recessive disorder caused by pathogenic variants in CYP11B2. To date, more than forty different pathogenic variants in the CYP11B2 gene causing isolated aldosterone synthase deficiency have been identified. We report on a novel pathogenic CYP11B2 variant.Case report: The second child (male) of consanguineous, healthy parents, presented shortly after...

Objective: To describe clinical, laboratory and genetic characteristics of 42 short children from 34 consanguineous Turkish families.Design: Descriptive case series.Methods: After collecting clinical information, DNA samples were analysed in three European laboratories. In 18 children (12 families) suspected of a genetic defect in the growth hormone (GH)-insulin-like growth factor ...

Background: Turner Syndrome (TS) with a 45,X phenotype is generally more severe than TS with mosaicism, but the potential role of the degree of mosaicism in modulating TS phenotype has never been investigated. We assessed the impact of various degrees of 45,X/ 46,XX mosaicism on phenotypic features in a cohort of TS patients.Method: We analysed a cohort of TS with 45,X/ 46,XX mosaicism (percentage mosaicism from peripheral blood lymphocytes, known in <em...

Background: The C3 epimer of 25-hydroxi-vitamin D3 (Epi25OHD3) is present in the pediatric and adult population and varies according to age. If it measurement is clinically relevant and should be considered to classify Vitamin D status is still unknown.Objective: To measure 25OHD3, 25-hydroxy-Vitamin D2 (25OHD2) and Epi25OHD3 and to compare them with PTH and calcemia.Method: Subjects: Children between 5 and 8 years of age born very...

Purpose: Childhood-onset craniopharyngiomas (CP) are diagnosed due to clinical symptoms (symCP) or incidentally (incCP). In childhood-onset CP, studies on history before CP diagnosis have revealed symptoms and complaints related to CP, which were documented in CP patients’ records with a median duration of 5 months prior to CP diagnosis. We investigated clinical manifestations and outcome in incCPs and symCPs.Methods:</stro...

Orexigenic molecules such as ghrelin and neuropeptide Y (NPY) can contribute puberty as directly or indirectly. Our aim is to investigate the changes in the levels of orexigenic peptides ghrelin and neuropeptide Y at the onset of puberty in girls with idiopathic central precocious puberty (ICPP), premature thelarche (PT) and premature adrenarche (PA), and to determine their relationship with gonadotropins and anthropometric parameters.Subjects an...

Background: Cranioparyngiomas are rare low-grade embryonic malformational tumors of the sellar/parasellar region. The prognosis after diagnosis during childood and adolescence is influenced by endocrine and hypothalamic long-term sequelae. A legal status of the degree of disability (GdB), according to the German Social Code Book V that is worthy of support provides financial means for psychosocial rehabilitation and participation of craniopharyngioma survivors...

Background: Polycystic ovary syndrome (PCOS) continues to be a diagnostic challenge in adolescent girls. Symptoms like oligomenorrhea and acne, and polycystic ovarian morphology on ultrasound can be normal variants in adolescents. In addition to diagnostic difficulties, there is lack of randomized controlled trials for PCOS treatments specific to adolescents. Current guidelines for diagnosis and management of PCOS in adolescents have large variations and rely ...

Introduction: Physiological pubertal gynecomastia is common in adolescents aged 13-14 years. Most physiological pubertal gynecomastia regresses spontaneously within 1-2 years. In studies: If it lasts more than 2 years, if prepubertal has started, endocrine evaluation is recommended. Sex differentiation disorders or genital abnormalities such as increased aromatase activity, adrenal/testicular neoplasia, partial androgen insensitivity syndrome and Klinefelter s...