ESPE Abstracts

Background: Steroidogenic factor 1 (SF1), encoded by the gene NR5A1, is a member of the orphan nuclear receptor superfamily and important regulator of gonadal and adrenal function. Variations in SF1 lead to a spectrum of conditions including 46,XY DSD, hypospadias, adrenal insufficiency, male factor infertility, and primary ovarian insufficiency. Inheritance patterns can be complicated (e.g. de novo dominant, sex-limited dominant, and autosomal recessive). In...

22-month girl presented with 3 days of cough and fevers, 2 weeks of rhinorrhoea and frequent “clearing of throat” and 6 months of diaphoresis and growth spurt. On examination, she was flushed and diaphoretic with a large goitre. She had a low grade fever (T=37.9) with signs of cardiac compromise (bounding pulse sinus tachycardia [HR=200bpm]. She was hypertensive [BP=145/90mmHg] and tachypnoeic [RR=36/min] with respiratory distress and right-sided crepitations. She ha...

17-beta-hydroxysteroid dehydrogenase (17-beta-HSD3) deficiency is an autosomal recessive 46XY disorder of sex development (DSD), which results in impaired gonadal androstenedione conversion to testosterone. The phenotype ranges from female to ambiguous genitalia, with wolffian-duct structures and testes. HCG stimulation tests assess testosterone biosynthesis, though biochemical results in confirmed 17-beta-HSD3 deficiency may overlap with gonadal dysgenesis making diagnosis ch...

Introduction: Very little is known about the development of the immune system during puberty. Autoimmune diseases, like juvenile onset systemic lupus erythematosus (jSLE), have an unexplained female bias and a higher incidence after puberty. IFN alpha (IFNα) is a potent antiviral cytokine, and jSLE has a strong IFNα transcriptional signature. Toll like receptors 7 and 9 (TLR7/9) sense viral RNA and DNA respectively, and trigger plasmacytoid dendritic cells (pDC) to p...

The genomic analysis of 46,XX individuals with testes (known as testicular Disorders/Differences of Sex Development (TDSD) or ovotestes (ovotesticular DSD (OTDSD)) supports the hypothesis that ‘pro-testis/anti-ovary’ or ‘pro-ovary/anti-testis’ genetic pathways exist. These children typically present with virilized genitalia due to testosterone production from the presence of testicular tissue. Many individuals with TDSD and a minority with OTDSD have a tran...

Introduction: Patients with congenital adrenal hyperplasia (CAH) require life long glucocorticoid (GC) therapy. In CAH, the adverse effect of GC on bone health (BH) may be counteracted by the effect of modest elevations in adrenal androgens.Aim: To examine relationships between BH index (BHI) SDS, calculated by BoneXpert on bone age (BA) x-rays, BA, hydrocortisone (HC) dose (mg/m2 per day), and mean 17-hydroxyprogesterone (17-OHP) concentratio...

Case study: Baby A, a boy was delivered at 33 weeks gestation (birth weight 1.545 kg, 9th centile) by emergency caesarean section following maternal preeclampsia. He did not require any resuscitation at birth. He is the second baby of non-consanguineous Asian parents with no family history to note. Both parents are healthy and there was no history of maternal medication use. Baby A experienced respiratory distress syndrome and suspected sepsis. He developed a heart murmur, con...

Background: Age at menarche in girls varies widely between individuals, is a heritable trait and is associated with risks for adult obesity, type 2 diabetes, cardiovascular disease, breast cancer and all-cause mortality.Objective and Hypotheses: The mechanisms that determine pubertal timing and underlie its links to later disease remain unclear.Method: We performed a genome-wide association study meta-analysis of genome-wide or den...

Background: Cognitive function has been shown to improve following GH treatment in adults. In children born small for gestational age (SGA) IQ scores were found to improve following 24 months of GH treatment.Objective and hypotheses: The aim was to observe cognitive function in pre-pubertal, short children with isolated GH deficiency (IGHD) or idiopathic short stature (ISS) during the first 24 months of GH treatment. Cognitive testing was carried out usi...

Background: Alterations in the timing or expression level of players involved in sex determination and differentiation can cause disorders of sex development, gonadal dysgenesis and germ cell neoplasms later in life. The mitosis–meiosis switch is one of the first manifestations of female sex differentiation and we hypothesise that a conflict between meiosis-inhibiting (male pathway) and meiosis-inducing signals (female pathway) is one of the possible mechanisms for disrup...