ESPE Abstracts

Abnormal postnatal patterns of linear growth and weight gain have been reported in infants born to mothers with gestational diabetes (IDM). We evaluated the growth pattern from birth to the age of 2 years of 79 IDMs who were born at or near term with significant hypoglycemia. Anthropometric measures (z scores) from birth, 2,4.6,12,18, and 2 years were measured in 79 IDM who presented with significant neonatal hypoglycemia (Plasma value less than 20-25 mg/dL (1.1-1.4 mmol/L)) t...

We evaluated the anthropometric measures using WHO growth charts (z scores) from birth, 2,4,6,12,18 and 2 years for 79 IDM presented with significant neonatal hypoglycemia in comparison to 51 infants of INDM who had significant hypoglycemia due to transient hyperinsulinemia who required treatment for >2 days.Results: IDM had WAZ = -0.8 +/- 1.74, L AZ = -0.6 +/- 1.72 and WLZ = -0.96 +/- 1.9. They IDM were heavier and taller than the IN...

Background: Disorders of sex development (DSD) may be associated with adverse psychosocial and psychosexual outcomes in adults. However, there is a paucity of information on health-related quality of life outcomes in parents and young children with DSD.Objective: To evaluate the use of parent-reported outcome (PRO) questionnaires that can be routinely used in the outpatient setting to assess the impact of DSD on parents ...

Background: Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare autosomal recessive condition characterized by cortisol deficiency and elevated ACTH secretion, resulting in excess androgen production. This exposure to excess androgens contributes to advanced skeletal maturation and reduced growth in puberty. Data from the I-CAH registry were analyzed to identify growth-related characteristics of children and adolescents with...

In the history of biosynthetic GH, first prediction models on long term outcome of therapy were based on large multinational cohorts of various growth disorders and have concentrated on GH dose. In this study we analyzed the 1st year and final height (FH) data in a large single center cohort (center of expertise for rare growth disorders) and compared patient outcome and predictions in GHD and SGA. Our aim was to predict treatment outcome using simple previously suggested para...

Background and Aims: Disorders of sex development (DSD) are a group of rare congenital conditions. Clinical management of patients with DSD is often difficult and requires multidisciplinary approach.Material and methods: Twenty-eight patients aged 1 to 18 years with different forms of 46, XY DSD were included. The subjects have undergone a clinical examination, karyotype analysis followed by the next generation sequencing (NGS) using MiS...

Introduction: This was a population-based retrospective data analysis. The study was part of the Vulnerable Newborn Study, approved by the Hamad Medical Corporation Institutional Review Board (IRB No MRC-01-21-277).Setting and Participants: The population for this analysis comprised of a 4-year cohort data (January 2016 to December 2019) for births conducted in all HMC hospitals (representing 90% of all births in the cou...

Background: Reaching a definitive diagnosis in individuals with XY DSD is challenging and the time taken to reach a diagnosis is an important clinical benchmark that has not been sufficiently explored in this group of conditions.Objective: To evaluate the diagnostic process with a focus on the time to diagnosis in children with XY DSD reported via the e-reporting platform (e-REC) of the European Registries for Rare Endoc...

Introduction: The diagnosis and treatment of patients with rare diseases is often difficult as most clinicians do not encounter them. Therefore, centralization and collaboration between centers of expertise is necessary. European Reference Networks (ERN’s) such as RareEndoERN provide a platform for this, with one of its main thematic groups having a specific focus on rare growth and obesity disorders. Genetic obesity encompasses a heterogeneous group of c...

Objectives: Anti-Müllerian hormone (AMH) is produced by Sertoli cells in the testicles and granulosa cells in the ovaries. Increased abdominal adipose tissue initiates metabolic and endocrine disorders and predisposes to polycystic ovary syndrome. AMH is used as a marker in PCOS. A decrease in AMH levels has been reported in adults with obesity and increased central adiposity. The purpose of this study was to assess the serum AMH level and related factors...