hrp0084p2-472 | Growth | ESPE2015

Characterisation of Partial SHOX Deletions/Duplications Reveals Intron 3 to be a Hotspot Region

Benito-Sanz Sara , Belinchon Alberta , Heath Karen E

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...

hrp0094p2-234 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) | ESPE2021

Continuous Glucose Monitoring (CGM) Reveals Undertreated Hypoglycemia in Patients with Congenital Hyperinsulinism

Hood Davelyn E. , Roberts Brian K. , Neale Ann , Raskin Julie ,

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...

hrp0095p1-333 | Multisystem Endocrine Disorders | ESPE2022

Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome

P. Suntharalingham Jenifer , Ishida Miho , E. Stalman Susanne , Solanky Nita , E. Moore Gudrun , C. Achermann John , Buonocore Federica

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 ...

hrp0082fc6.3 | Gonads &amp; DSD | ESPE2014

LRH1 Rescues SF1 Deficiency for Steroidogenesis in vitro but Cannot Explain the Broad Phenotype of SF1 Deficiency in men

Camats Nuria , Fernandez-Cancio Monica , Audi Laura , Andaluz Pilar , Mullis Primus E , Carrascosa Antonio , Fluck Christa E

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/<...

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....

hrp0092fc5.4 | Thyroid | ESPE2019

Thyroid Dysgenesis: Exome-Wide Analysis Identifies Rare Variants in Genes Involved in Thyroid Development and Cancer

Larrivée-Vanier Stéphanie , Jean-Louis Martineau , Magne Fabien , Bui Helen , Samuels Mark E. , Polak Michel , Van Vliet Guy , Deladoëy Johnny

Context: Congenital hypothyroidism from thyroid dysgenesis (CHTD) is mainly a sporadic and non-syndromic condition occurring in 1:4,000 live births. In contrast to rare cases of syndromic monogenic CHTD, non-syndromic (NS) CHTD shows low familial recurrence risk (~2%) and low concordance rate between MZ twins, suggesting a two-hit scenario combining post-zygotic events with either a de novo monogenic mutation or incomplete penetrance of polyg...

hrp0094fc5.4 | Sex Development and Gender Incongruence | ESPE2021

Reproductive hormone levels in Minipuberty as a predictor of Testicular Endocrine Function and Penile Length in Healthy Young Men: An 18-year longitudinal Cohort Study

Henriksen Louise S. , Petersen Jorgen H. , Skakkebaek Niels E. , Jorgensen Niels , Virtanen Helena E. , Juul Anders , Toppari Jorma , Main Katharina M. ,

Background: Minipuberty denotes a period 1–6 months postnatally in boys during which a transient activation of the hypothalamic-pituitary-gonadal axis is observed. This early hormone activation can be used diagnostically in patients suspected of pituitary deficiency and differences in sex development. However, its significance for prediction of reproductive function in healthy young men is unknown.Objective: To eval...

hrp0097p1-554 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

The Evaluation of Cranial Magnetic Resonance Images of Rapidly Progressive Early Puberty Cases

Kilinç Uğurlu Aylin , Özdem&idot;r Gökçe Ayse , Çakir Gündoğan Seçil , Seçil EkşİOğlu Ayşe , Boyraz

Mehmet

Purpose: We aimed to determine the frequency and distribution of intracranial pathologies in patients over 8 years of age by evaluating MRI images of patients diagnosed with early puberty-rapidly progressive.Materials and Methods: The study comprised 118 female patients diagnosed with precocious puberty (PP) and rapidly progressive early puberty (RPEP). The onset of puberty in girls before the age of 8 years is defined a...

hrp0089p1-p156 | GH &amp; IGFs P1 | ESPE2018

The Effect of Growth Hormone Treatment in Children after Hematopoietic Stem Cell Transplantation

Hoekx CA , Bresters D , Le Cessie S , Scholte C , Oostdijk W , Hannema SE

Background: Hematopoietic stem cell transplantation (HSCT) has become more common in treating malignant and nonmalignant diseases in children. However, HSCT is associated with several late effects that can impair growth, like insufficient growth hormone (GH) secretion, hypogonadism and growth plate damage. Growth hormone treatment (GHRx) is offered but limited data are available on its effect on adult height.Objective: To evaluate the effectiveness of GH...

hrp0095p1-315 | Growth and Syndromes | ESPE2022

A Novel PADI6 Variant as a Cause of Recurrent Miscarriage and Multi Locus Imprinting Disturbance within the same family

Stern Eve , Goldman Shira , De Franco Elisa , E Flanagan Sarah , Pinhas-Hamiel Orit , Regev Miriam

Background: Genomic imprinting is the process by which preferential methylation of one parental allele results in parent of origin specific expression of particular genes. Methylation is established during gametogenesis and is maintained throughout development. Alterations in any of the processes in the establishment and maintenance of methylation can lead to aberrant imprinting, which can result in either reactivation of the original silent allele or the sile...