ESPE Abstracts

Background: Transient neonatal adrenal dysfunction is reported in association with antiretroviral therapy with Lopinavir and Ritonavir. Other drugs have not been tested.Objective and hypotheses: We report on a preterm girl, born 26 weeks gestation, with elevated 17-hydroxyprogesterone (17OHP) at newborn screening. During pregnancy the mother was treated for HIV with Atripla (Efavirenz, Tenofovir, Emtricitabin) and viral load was suppressed. Furthermore t...

Background: Dyslipidemia increases the frequency and severity of micro- and macro-vascular complications of type 1 diabetes.Objective and hypotheses: The present study aims to determine the prevalence of dyslipidemia and its association with clinical and laboratory findings in diabetic children and adolescents.Methods: The study included 202 children and adolescents with type 1 diabetes. Demographic data and laboratory findings wer...

Background: Ovarian and uterine development in relation to hormonal feedback mechanisms (E2, LH, FSH, and inhibin) has rarely been studied. Therefore, the age specific and longitudinally adequate replacement dose of estradiol to achieve normal maturation in terms of ovarian and uterine development during infancy, childhood and adolescence remains not well known. However, aromatase deficiency offers an excellent model to study the relevant estradiol dose needed to ac...

Background: DAVID syndrome (deficit in anterior pituitary function and variable immune deficiency) (J Clin Endocrinol Metab 97 E121, 2012) can be caused by NFKB2 mutations (Am J Hum Genet 93 13, 2013). All patients have an orthotopic posterior pituitary (PP) and most only ACTH deficiency.Objective and Hypothesis: To describe a girl with common variable immunodeficiency (CVID), ectopic PP (EPP) ...

Background: Expression of SHOX, a transcription factor implicated in skeletal development, is regulated by the interaction of two promoters, weak, P1 (exon 1) and strong, P2 (exon 2), with at least, seven enhancers. SHOX haploinsufficiency, due to mutations in SHOX or its enhancers, explains ~70% of Leri-Weill dyschondrosteosis (LWD) and ~2.5% idiopathic short stature (ISS) cases whilst the underlying molecular mechanism in the remaining is unknown.<p...

Background: SHOX, located on the pseudoautosomal region 1 (PAR1), encodes a transcriptional factor implicated in human skeletal growth. Alterations in SHOX or its regulatory elements are observed in ~70% of patients with Leri–Weill dyschondrosteosis (LWD), in ~90% with Langer mesomelic dysplasia (LMD) and ~2.5% of patients with idiopathic short stature (ISS). SHOX deletions/duplications are a frequent alteration, with the majority encompassing the entire gene.<p class...

Introduction: Congenital Hyperinsulinism (CHI) is the most frequent cause of severe, persistent hypoglycemia in children. Despite current treatments, patients/caregivers report continued hypoglycemia according to the HI Global Registry 2020 Annual Report. Published literature characterizing hypoglycemia in CHI patients on standard of care (SOC) therapies is lacking.Objective: To quantify the extent of hypoglycemia in CHI...

Background: Heterozygous de novo variants in SAMD9 cause the complex multisystem growth disorder, MIRAGE syndrome. Core features are myelodysplasia, infection, restricted growth, adrenal hypoplasia, genital/gonadal phenotypes, and enteropathy. However, the range of additional associations is expanding and includes disrupted placental development, poor post-natal growth, and other endocrine features. Milder phenotypes are also described, such ...

Introduction: Steroidogenic factor1 (SF1/NR5A1) regulates adrenal and sex development and function. SF1 mutations manifest with a broad phenotype; generally in 46,XY individuals with disorders of sex development (DSD) and in women with ovarian insufficiency. So far, no genotype–phenotype correlation has been found. We hypothesized that the broad phenotype of SF1 mutations may be due to a second hit in a gene with similar function. Liver receptor homolog-1 (LRH1/<...

6q24 methylation defects are the most common cause of Transient Neonatal Diabetes Mellitus (TNDM). The clinical picture is one of impaired insulin secretion, small for gestational age and diabetes mellitus aged <6 months. This case illustrates the fluctuation between both hyper- and hypoglycaemia that can been seen in 6q24 methylation defects. A term, small for gestational age baby boy was noted to have hypoglycaemia (BSL 1.8 mmol/l) at 1.5 h of life which resolved with or...