ESPE Abstracts

Introduction: It is thought that sex hormone binding protein (SHBG) is involved in glucose homeostasis in addition to regulate the levels of sex hormones. Clinical studies associate reduced SHBG concentrations with insulin resistance (IR).Objective: To evaluate the relationship of SHBG with IR and hyperandrogenism markers in a group of adolescents affected with polycystic ovarian syndrome (PCOS), and how weight could affect these markers.<p class="ab...

Background: The persistent Müllerian duct syndrome (PMDS) is a rare 46-XY disorder of sex development, characterized by the persistence of Müllerian derivatives (uterus, Fallopian tubes) in otherwise normally virilised males. The condition is transmitted as a recessive autosomal trait and is caused in most cases by a defect in either the anti-Müllerian hormone (AMH) or the AMH type-II receptor (AMHR-II) genes.Case report: We present a 9 ye...

Background: Hoffmann syndrome is a specific and rare form of hypothyroid myopathy in adults characterized by presence of muscle stiffness, proximal weakness and pseudohypertrophy. When this occurs in a cretin child it is known as Kocher–Debré–Sémélaigne syndrome. Patients with more severe or longstanding untreated hypothyroidism are more likely to develop clinically significant muscle disease. Serum muscle enzyme levels as CK, myoglobin and lactate deh...

Background: Liver steatosis (LS) results from ectopic fat deposition and can be present in obesity even at early ages. Similar to insulin resistance, the onset of LS does not seem to depend exclusively upon the severity of obesity and shows a large interindividual variability.Objective: Our objective was to develop a predictive normogram for LS in children and adolescents with obesity ba...

Introduction: 46, XY DSD leave lifelong implications on parents and patients. Documented scientific literature on children with 46, XY DSD is scares in Sri Lanka. This study assesses the psychosocial wellbeing of parents and the quality of life in children with 46 XY DSD.Objective: To assess the psychosocial wellbeing of parents and the quality of life in children with 46, XY DSD attending the endocrine clinics at Lady R...

Background: Patients with Klinefelter syndrome (KS) have an increased risk for osteoporosis and fractures in adulthood. Data on bone mineralization in adolescence are limited, although it is a known at-risk period for vitamin D deficiency, low calcium intake and evolving hypogonadism.Objective and hypotheses: To study the bone mineralization in KS adolescents and its relationship with vitamin D/calcium and gonadal status. KS adolescents with low calcium ...

Background: Virilization of young children after topical androgen use by their fathers through skin contact is well-known. The long-term consequences of such exposure at very young age are not well known.Objective and hypotheses: The aim is to report the occurrence of spermarche in a young boy and central precocious puberty in a young girl as late consequences of interpersonal transfer of testosterone gel.Method: Testosterone conta...

Background: In our center for adults with rare genetic syndromes, we see adolescents and young adults with overgrowth syndromes, among others. In our 'general endocrinology' outpatient clinic, we also see patients with overgrowth, but in these cases the overgrowth is due to excess of growth hormone (GH). Our clinical impression is that the differentiation between the two is often challenging. Therefore, we believe it is important to emphasize the dif...

Background: Congenital GH deficiency (GHD) can be isolated (IGHD) or combined with other pituitary hormone deficiencies (CPHD). The identification of mutations has clinical implications for the management of patients and genetic counseling1.Objective: To prospectively conduct a molecular-genetic analysis in genes associated with IGHD or CPHD.Method: Forty patients with IGHD (n=8) or CPHD (n=32) were stu...

Introduction: The reported occurrence and management of acute adrenal insufficiency (AI) – related adverse events (AE) vary widely between centres and may depend on available resources.Aim: To use the data within the I-CAH Registry to understand the association between the occurrence and management of AI related AE, their management and the availability of local resources.Methods:</st...