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ea0085p44 | Pituitary and Growth 1 | BSPED2022

Understanding the molecular basis of short stature in six patients with pathogenic variants in HMGA2

Maharaj Avinaash , Cottrell Emily , van Duyvenvoorde Hermine , de Bruin Christiaan , Joustra Sjoerd , Kant Sarina , van der Kaay Danielle , Inmaculada Castilla de Cortazar Larrea Maria , Massoud Ahmed , Metherell Louise , Hwa Vivian , Hombach-Klonisch Sabine , Klonisch Thomas , Storr Helen

Background: Silver-Russell syndrome (SRS) is a unique disorder characterised by characteristic features and growth restriction due to 11p15 LOM or upd(7)Mat in ~60% cases. Monogenic defects are a rare cause of SRS and HMGA2 mutations have been identified in 4 cases to date. The function of HMGA2 is poorly understood.Objectives: Assess the clinical phenotypes of 6 new patients with novel heterozygous HMGA2 defects and evaluate t...

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ea0085oc8.3 | Oral Communications 8 | BSPED2022

Characterisation of the first heterozygous missense HMGA2 variant helps delineate the crucial functional roles of a novel growth gene

Cottrell Emily , Maharaj Avinaash , Triggs-Raine Barbara , Thanasupawat Thatchawan , Williams Jack , Fujimoto Masanobu , A. Van Duyvenvoorde Hermine , De Bruin Christiaan , Joustra Sjoerd , Kant Sarina , Van der Kaay Danielle , Inmaculada Castilla de Cortazar Larrea Maria , Massoud Ahmed , Metherell Louise A , Hwa Vivian , Hombach-Klonisch Sabine , Klonisch Thomas , Storr Helen L.

Background: Silver Russell syndrome (SRS) is genetically heterogenous and around 30% of patients with clinical SRS have no genetic diagnosis. Point mutations in HMGA2 have been reported in 4 patients worldwide causing growth failure and an SRS-like phenotype. Despite strong evidence of the crucial role of HMGA2 in growth across species, the mechanism of action of HMGA2 in human linear growth is unclear.Objective: Identify and f...

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ea0090oc5.2 | Oral Communications 5: Adrenal and Cardiovascular Endocrinology 1 | ECE2023

The association between hormonal control during infancy and testicular adrenal rest tumor development in males with congenital adrenal hyperplasia

Schroder Mariska , Neacşu Mihaela , Sweep Fred , Span Paul N , Adriaansen Bas , van Herwaarden Antonius , Bryce Jillian , Ahmed Faisal , Ali Salma , Aparecida Sartori Sanchez Bachega Tania , Baronio Federico , Holtum Birkebaek Niels , Bonfig Walter , Clemente Maria , Cools Martine , de Bruin Christiaan , de Vries Liat , Elsedfy Heba , Globa Evgenia , Guran Tulay , Guven Ayla , Amr Nermine Hussein , Januś Dominika , Konrad Daniel , Markosyan Renata , Miranda Mirela , Poyrazoğlu Şukran , Rees Aled , Salerno Mariacarolina , Stancampiano Marianna Rita , Vieitis Ana , Abali Zehra Yavas , - van der Grinten Hedi Claahsen

Background: Testicular Adrenal Rest Tumors (TART) in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD) or 11-hydroxylase deficiency (11OHD) are benign lesions causing testicular damage and infertility. We hypothesize that high ACTH exposure due to poor hormonal control during early life is promoting development of TART later in life.Objective: This study aims to examine the relation between early CAH diagnosis and cons...

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Endocrine Abstracts

Understanding the molecular basis of short stature in six patients with pathogenic variants in HMGA2

Characterisation of the first heterozygous missense HMGA2 variant helps delineate the crucial functional roles of a novel growth gene

The association between hormonal control during infancy and testicular adrenal rest tumor development in males with congenital adrenal hyperplasia

BiosciAbstracts