hrp0092rfc12.1 | Growth and Syndromes (to include Turner syndrome) | ESPE2019

Karyotyping of oocytes, granulosa cells and stromal cells in the ovarian tissue from patients with Turner syndrome: a pilot study

Peek Ron , Schleedoorn Myra , Beerendonk Catharina , van der Velden Janielle , Braat Didi , Smeets Dominique , Fleischer Kathrin

Summary Answer: Most primordial/primary oocytes were found to have a 46,XX karyotype. Chromosome patterns of the ovarian cells were different from that observed in other tissues.Background: TS is a chromosomal condition associated with partial or complete absence of one of the two X-chromosomes. Females with TS have a limited reproductive lifespan due to an accelerated loss of germ cells. It has been hypothesized that vi...

hrp0092p1-52 | Fat, Metabolism and Obesity | ESPE2019

Effect of Feeding Mode on Longitudinal Body Composition in Early Life

de Fluiter Kirsten S , van Beijsterveldt Inge ALP , Acton Dennis , Hokken-Koelega Anita CS

Background: Excessive gain in fat mass (FM) during the first months of life, known as the critical window for adiposity programming, is associated with an increased risk for adiposity and cardiovascular diseases in later life. Early life nutrition (breastfeeding or formula feeding) might influence body composition (FM and fat free mass (FFM)) development in early life.Aims: To investigate differences in sex-specific long...

hrp0092p1-127 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Mutations in CBX2 Associated with Gonadal Anomalies in 46,XY and 46,XX Individuals

Merel Tiphanie , Eozenou Caroline , Van Maldergem Lionel , Globa Evgenia , McElreavey Ken , Bashamboo Anu

The Polycomb Repressive Complex 1 (PRC1) represses gene expression through CBX2, which binds to H3K27me3 and promotes chromatin expression. Recently, CBX2 has been shown to function in testis-formation by directly repressing Wnt4's downstream target, Lef1, in Sertoli cells rather than positively controlling Sry expression, as previously thought. Here, we describe two new cases carrying missense mutations in CBX2. The first is a female with 46,XY ...

hrp0092p1-171 | Bone, Growth Plate and Mineral Metabolism (1) | ESPE2019

Evaluation of Bone Health in Adolescents and Young Adults After Allogeneic Human Stem Cell Transplantation in Childhood: A Single Center Cross-Sectional Study

De Waele Kathleen , Tack Lloyd , Bordon Victoria , Van Lancker Sophie , Dhooge Catharina , Cools Martine

Introduction: Hormonal deficits are well known complications after allogeneic human stem cell transplantation (alloHSCT) in childhood and treated according to existing guidelines. It is assumed that bone mass and strength accrual during puberty is also often impaired, due to toxic therapy and prolonged inactivity, but data on bone geometry and strength are scare in this particular group.Objective/Patients and Methods: Cr...

hrp0092p1-425 | Thyroid (2) | ESPE2019

Maternally Inherited Resistance to Thyroid Hormones with Discordant Postnatal Phenotypes in Two Infant Brothers

Cavin Rosalie , Chevalier Claudia , Van Vliet Guy , Deladoëy Johnny

Resistance to thyroid hormone due to mutations inactivating thyroid hormone receptor-Beta occurs in one in 40,000 individuals and can arise de novo or be inherited, generally in a dominant fashion. Clinical manifestations are widely variable and include failure to thrive in infancy. The biochemical diagnosis is usually straightforward: high serum fT4 and non-suppressed TSH.We report two brothers who both inherited the known c.728G>A, p.R24...

hrp0092p2-126 | Fat, Metabolism and Obesity | ESPE2019

Tracking Body Mass Index From Infancy into Childhood

Beijsterveldt Inge van , de Fluiter Kirsten , Acton Dennis , Hokken-Koelega Anita

Background and Aims: It has been postulated that the first 3 months of life are critical for programming of adult metabolic health. We investigated if Body Mass Index (BMI) and Fat Mass percentage (FM%) in early life tracks to 5 years of age and if feeding mode influences tracking.Methods: In 268 term born, healthy infants from the Sophia Pluto cohort (161 boys ), BMI was determined at 3 and 6 months, 2 and 5 years o...

hrp0092p3-299 | Late Breaking Abstracts | ESPE2019

Review of Neonatal Cortisol Evaluation between 2012–2018 in a Single Centre: Trends, Outcomes and Associations

Makaya Taffy , Sarvasiddhi Satish , Menon Smrithi , van Boxel Elizabeth-Jane , Shine Brian

Background: Neonatal cortisol assessment is indicated in suspected adrenal insufficiency. Clinical presentation includes: low blood glucose, low blood pressure, ambiguous genitalia, electrolyte abnormalities, midline abnormalities.Aims: Review the trends, outcomes and associations of cortisol assessment in neonates within our Trust between 2012-2018.Objectives: Review:<p class=...

hrp0089rfc1.1 | Adrenals &amp; HPA Axis | ESPE2018

The Relative Contributions of Genetic and Environmental Factors on Cortisol Metabolism at Pre-, Mid- and Post-Pubertal Ages

van Keulen Britt , Dolan Conor , Andrew Ruth , Walker Brian , Boomsma Dorret , Rotteveel Joost , Finken Martijn

Background: Inter-individual differences in the metabolism of cortisol have been postulated to emerge during puberty, and might be explained by a complex interplay of genetic and environmental factors. The aim of the current study was to estimate the relative contributions of genetic, shared environmental, and unshared environmental factors on cortisol metabolism in a longitudinal twin cohort assessed at pre-pubertal, mid-pubertal and post-pubertal ages....

hrp0089p2-p035 | Adrenals and HPA Axis P2 | ESPE2018

Pseudopubertas Praecox in a 4 Year Old Boy with Bilateral Atypical Adrenocortical Adenomas

Brichta Corinna , Wurm Michael , Hodde Franka , van der Werf-Grohmann Natascha , Schwab Karl Otfried

Introduction: Adrenocortical tumors are very rare in children, with a prevalence of just 0.3 cases/million/year. Autonomic hormone production by adrenal cortical tumors may cause peripheral precocious puberty.Case report: A 4-year-old boy was presented by his parents because of pubertal behavior with aggressive features and a significant increase in the size of the penis. The parents also noticed a strong growth spurt and sweat odor. The boy had a good g...

hrp0089p2-p108 | Diabetes &amp; Insulin P2 | ESPE2018

Severe Stress-Induced Subcutaneous and Intravenous Insulin Resistance in an Eight Year Old Boy with T1DM, Necessitating Seven Months of IV Insulin, Reversed after Psychiatric Treatment

Ommen CCN van , Hoorweg-Nijman JJG , Stuart H , Deschamps PKH , Stuart AA Verrijn

Background: Persistent severe insulin resistance (IR) in T1DM is infrequent, complex to handle and disabling. Genetic and epigenetic factors play a significant role in the pathophysiology of IR. This case report discusses the potential role of habitual and stress-inducing environmental factors in a school-aged boy with a neurodevelopmental disorder.Case report: We present an eight year old boy with a three year history of T1DM (GAD positive) regulated by...