ESPE Abstracts

Background/aim: Hyperparathyroidism (HPHT) is a common feature in patients with X-linked hypophosphatemia (XLH) especially when treated with vitamin D analogues and phosphate supplements. Although the exact mechanism is not clear, it is assumed that phosphate supplements taken chronically stimulate parathyroid hormone (PTH) secretion. We prospectively assessed the effect of a novel pathogenetic treatment anti-FGF23 (burosumab) on PTH levels in children with XL...

Growth hormone (GH) stimulates insulin like growth factor I (IGF I) release. IGF-I is the standard biomarker for monitoring GH effects during treatment and to achieve optimal long-term safety, and to a limited extent, monitor efficacy in children with GH deficiency (GHD). The IGF I profile during treatment with a long acting GH (LAGH), such as once weekly somapacitan (Novo Nordisk), differs from the daily GH profile by exhibiting larger peaks and troughs over the dosing interv...

Central hypothyroidism (CeH) is characterized by thyroid hormone deficiency due to impairment of pituitary TSH or hypothalamic TRH biosynthesis. CeH is often seen as a part of multiple pituitary hormone deficiencies, but it can also be seen as isolated. Diagnosis may be challenging. To date, some variants that can cause isolated CeH have been identified; although in a number of patients the cause has not been clarified. Recently, variants of the insulin receptor substrate 4 (<...

Background: Growth hormone deficiency (GHD) is one of the main endocrine disorders causing short stature. It may be due to isolated growth hormone deficiency (IGHD) or associated with multiple pituitary hormone deficiency (MPHD). The aim of this study was evaluation of anthropometric factors before and after growth hormone (GH) therapy.Patients and method: This is a historical cohort study. The diagnosis of GHD in childr...

Background: Maternal ovarian luteoma is a rare condition that may cause virilization of female fetuses.Case presentation: We present the case of a baby born at 29 weeks gestational age to a 20 yo mother with history of two spontaneous abortions and no live births. Physical exam after birth revealed ambiguous genitalia, with a stretched phallic length of 1 cm with hypospadias on the ventral surface of phallus and complete fusion of rugated labioscrotal fo...

Background: Obesity in childhood and adolescence represents one of the most challenging public health problems of our century. The prevalence of overweight and obesity in Greece is approximately 21% in children younger than 6 years and up to 40% in older children and adolescents. Mild elevations of TSH concentrations are often detected in obese children and adolescents.Aim: To investigate the thyroid function in overweig...

Introduction: Interstitial deletions on the long arm of the 12th chromosome are rare and often occur de novo. These deletions have been found to be associated with mental retardation, developmental delay, growth retardation and various congenital anomalies in different studies. In studies up to date, it has been determined all interstitial 12q deletions are clustered between five regions on this chromosome (HMGA2, GRIP1, LEMD3, MSRB3, and TMBIM4). Low birth we...

Background: Biochemically monitoring 21-hydroxylase deficiency (21OHD) treatment is challenging. Serum/blood 17-hydroxyprogesterone (17OHP) measurements, especially in the early morning before medication, are traditionally used for this purpose. Urinary pregnanetriol (PT), a urinary metabolite of 17OHP, may also be used. Based on auxological data, we previously reported that the first morning PT value in the range of 2.2–3.3 mg/gCr is optimal for monitori...

Objective: AMH causes fetal paramesonephric duct regression and is involved in testicular development and function. Sertoli cell AMH remains high during childhood until puberty. The appendix testis (AT), a remnant of the paramesonephric duct, contains both androgen and estrogen receptors. AT androgen receptors have been reported to play a role in embryonic testicular descent. The AT is commonly resected during orchiopexy and abdominal surgery as possible torsion in the future ...

Introduction: Steroid hormone biosynthesis is initiated by the cholesterol side-chain cleavage enzyme (P450scc), which converts cholesterol to pregnenolone, the precursor of all steroid hormones. This enzyme is encoded by the CYP11A1 gene and is responsible for glucocorticoid, mineralocorticoid and sex steroid synthesis in the adrenal glands, gonads and placenta. Early or late onset adrenal insufficiency, 46, XY sex development disorder, and hypergonadotropic ...