ESPE Abstracts

Background: Routine biochemical assessment in patients with congenital adrenal hyperplasia (CAH) includes measurement of serum 17 hydroxyprogesterone (17OHP), androstenedione (A4) and testosterone (T) and their metabolites in urine. Several studies have also described 11 oxygenated 19 carbon (11oxC19) steroids as a clinically relevant androgenetic source and highlighted their potential as markers for evaluation of adrenal androgen excess in patients with 21-hy...

Introduction: Premature ovarian failure (POF) is defined as ovarian failure developing before the age of 40. The etiology of genetic POF is quite heterogeneous and can be due to genetic, autoimmune, environmental, viral infections or iatrogenic causes.Objective: The aim of this study is to investigate the molecular genetic causes of non-syndromic POF cases with the gene panel based on next generation sequence analysis an...

Introduction: Advances in diagnostic capability in the field of DSD hold great promise but need a regular review.Objectives: To study the range of endocrine and molecular genetic variation in a group of boys undergoing investigation for XY DSD.Methods: 157boys with median age of 0.9yrs (range,0,18) evaluated by the DSD Diagnostic Board in Glasgow from 2016to 2021 were included. Seq...

Introduction: Anti-thyroid arthritis syndrome (AAS) is a rare complication that may occur in patients treated with anti-thyroid drugs. Presentation is variable and may include myalgia, arthralgia, skin rash, high fever, and polyarthritis. Herein, we present a girl diagnosed with AAS. Case report: A 9-year-old girl was admitted to emergency complaining of fever and arthralgia. She was the second child of non-consanguineous healthy parents. She had been d...

Background: Children with metabolic syndrome carry an increased risk for development of type 2 diabetes mellitus (T2DM) and cardiovascular disease (CVD) in adulthood. Patients with rare syndromic obesity, such as Bardet-Biedl syndrome (BBS), experience early-onset, severe obesity, which may convey an increased risk for developing obesity-related comorbidities and metabolic syndrome later in life. In clinical trials, treatment with the melanocortin-4 receptor a...

Introduction: Hypospadias is often associated with reduced testosterone synthesis or action. High rates of complications are reported with surgical repair of hypospadias, including wound dehiscence. Boys with hypospadias have previously been demonstrated to have increased reactive oxygen species (ROS) compared to healthy controls and there is a known link between male hypogonadism and oxidative stress. It is not clear what effect ROS has on wound healing in bo...

Background: Patients with rare monogenic obesity caused by biallelic variants of genes such as proopiomelanocortin (POMC; including variants in PCSK1) or leptin receptor (LEPR) deficiency, experience hyperphagia (a pathologic, insatiable hunger) and early-onset, severe obesity. This suggests potential increased risk over time of obesity-related comorbidities, including metabolic syndrome, a cluster of conditions associated with increased risk of cardiovascular...

Background: Resistance to thyroid hormone alpha (RTH-α) is characterized by varying degrees of symptoms and findings related to hypothyroidism. However, diagnosis is difficult since thyroid-stimulating hormone (TSH) levels are normal. Free triiodothyronine (fT3) and free thyroxine (fT4) levels can also be normal, but normo- or macrocytic anemia is generally present in the reported cases. L-thyroxine can alleviate some symptoms; however, there is limited ...

Background: Aromatase deficiency is a rare autosomal recessive condition due to mutation in CYP19A1 encoding aromatase enzymes. This enzyme protects fetus and mother from excess of androgens by converting them into estrogen. Lack of its activity results in accumulation of androgens which in turn lead to maternal and fetal virilization. We are reporting a neonate with atypical genitalia with severe maternal virilization due to a novel mutation in C...

Background: Evidence based treatment of patients with Disorders of sex development (DSD) is challenged by a dearth of outcome studies.Objective and hypotheses: To study the quality of life and the psychological outcomes of children with DSD other than congenital adrenal hyperplasia (CAH) and to identify relevant risk factors.Method: Patients with DSD other than CAH aged between 6 and 18 years. Control subjects were matched for age ...