ESPE Abstracts

Background: Anti-Müllerian hormone (AMH) is produced by small growing ovarian follicles. It inhibits both FSH induced maturation of follicles as well as aromatase activity. Genetic variation of AMH signalling is associated with age at menopause and circulating oestradiol levels, i.e. AMH rs10407022 T>G (intragenic) and AMHR2 rs11170547 C>T (putative enhancer).Objective and hypotheses: This present study aims to investigate ...

Background: Hypercalcaemia in infants may reach extreme levels due to hyperparathyroidism, subcutaneous fat necrosis, or vitamin D intoxication. Normal values for p-parathyroid hormone and p-calcitriol prompt search for other causes.Methods: Hospital file evaluation, case report.Results: A 5½-months-old Caucasian girl of non-consanguineous healthy parents was referred due to w...

Background: The large phenotypic spectrum of Disorders of Sex Development are caused by mutations in many different genes, but a large phenotypic spectrum of sexual disturbancies may also be seen with different mutations in the same gene.Objective and hypotheses: To report on one new mutation in the 5 alfa reductase (SRD5A2) gene, and describe the extremes of the phenotypic spectrum of 5 alfa reductase deficiency presented in two patients.<p class="a...

Introduction: Proopiomelanocortin (POMC) deficiency is a rare disease characterized by central adrenal insufficiency, early-onset obesity, red hair, and impaired skin pigmentation. This disease is caused by mutations of POMC that is localized in 2p23.3. Here, we aimed to present a case with central adrenal insufficiency, red hair, and rapid weight gain and who was detected frameshift mutation in the POMC.Case</s...

Background: Noonan syndrome (NS) is a condition caused by pathogenic variants of the genes of the RAS-MAPK pathway. Its clinical manifestations are diverse and include congenital heart disease, short stature, ocular abnormalities, coagulation defects and structural renal anomalies. Our aim was to find out whether the patients with a genetic diagnosis of NS in the West of Scotland were managed according to the Management of Noonan Syndrome guidelines (DYSCERNE)...

Introduction: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires appropriate diagnosis and treatment. The most common cause of PAI is congenital adrenal hyperplasia (CAH), but other well-established aetiologies include metabolic and autoimmune disorders, and physical damage. Mutations in more than 30 genes have now been associated with PAI, with considerable biochemical and phenotypic overlap. It is therefore importan...

Introduction: The identification of obese patients with increased susceptibility and risk for glucose intolerance and type 2 diabetes requires an oral glucose tolerance test (OGTT). Reference values for Body mass index (BMI) and Tri-Ponderal mass index (TMI) according to age and sex of healthy children in Spain without malnutrition or obesity have recently been published (*). TMI values remain very uniform in both boys and girls from the age of 8 to 18 years, ...

Background: overexpression of the oncogene Yes-associated protein 1 (YAP1), a Hippo pathway target, associates with increased cell proliferation in some human cancers. There is not data on adrenocortical tumors (ACT). YAP1 is a potential target of Wnt/β-catenin pathway, which plays an important role in ACTs.Objective and hypotheses: to evaluate the role of YAP1 and its interaction with the Wnt/β-catenin pathway in ACT.Met...

Background: Hyperphagia, or pathologic insatiable hunger, and early-onset obesity are prevalent clinical features of Bardet-Biedl syndrome (BBS), a rare genetic disorder. While hyperphagia and obesity have broad impacts on individuals with BBS and their caregivers, the extent of this burden is not well characterized.Methods: This multicountry cross-sectional survey of caregivers of individuals with BBS was conducted to q...

Background: TV-1106 (Teva Pharmaceuticals) is a genetically fused human GH and human serum albumin, in development for treatment of GH deficiency (GHD). TV-1106 has an extended duration of action compared to daily GH treatment and thus it is believed that treatment with TV-1106 can reduce the frequency of injections and improve compliance and quality of life for those requiring growth hormone replacement therapy. The efficacy and safety data from adult studies with TV-1106 sup...