hrp0092p2-198 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Evaluation of Diagnosis, Follow-up and Treatment Results of Growth Hormone in Rare Diseases; 10 Year Single Center Experience

Aycan Zehra , Arasli Yilmaz Aslihan , Yel Servet , Savas Erdeve Senay , Çetinkaya Semra

Introduction: Growth hormone therapy (GHT); have been used in rare diseases such as growth hormone deficiency (GHD), panhipopituitarism (PHP), intrauterine growth retardation (IUGR), Turner Syndrome(TS) for many years while the effects of diagnostic timing on the treatment results are known. However,data on the diagnosis and treatment processes of these diseases are limited in our country. The aim of this study was to evaluate the results of diagnosis, follow-...

hrp0098p3-216 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

A Case of Adipsic Diabetes Insipidus with Craniopharyngioma

Korkmaz Vural Meltem , Karacan Küçükali Gülin , Sarıkaya Özdemir Behiye , Yel Servet , Aslı Bala Keziban , Keskin Meliksah , Kurnaz Erdal , Savas Erdeve Senay

Introduction: Adipsic diabetes insipidus (ADI) arises from the destruction of both antidiuretic hormone (ADH) neurons and osmoreceptors in the hypothalamus. This condition is characterized by polyuria, loss of thirst sensation and hypernatremia. Managing serum sodium levels is particularly challenging, often resulting in fluctuations in serum sodium and osmolality, which elevate the risk of morbidity and mortality. This report presents the clinical follow-up o...

hrp0098p3-242 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Efficacy of Letrozole in Managing Prepubertal Gynecomastia Associated with Peutz-Jeghers Syndrome: A Case Study

Yel Servet , Bora Ulukapi Hasan , Kurnaz Erdal , Keskin Meliksah , Asli Bala Keziban , Ozbay Hosnut Ferda , Dere Gunal Yasemin , Gokce Cinar Hasibe , Savas Erdeve Senay

Introduction: Peutz-Jeghers syndrome (PJS) is a disorder characterized by autosomal dominant inheritance, hamartomatous polyps in the gastrointestinal system, mucocutaneous pigmentation, and a predisposition to malignancies, caused by mutations in the STK11 gene. In male patients, large cell calcifying Sertoli cell tumors associated with prepubertal gynecomastia can be observed. We present a case of prepubertal gynecomastia that led to a diagnosis of PJS durin...

hrp0098ha2 | A novel human disorder: QSOX2 deficiency‐induced growth restriction, gastrointestinal dysmotility and immune dysfunction highlights a new mechanism of disease. | ESPE2024

A novel human disorder: QSOX2 deficiency-induced growth restriction, gastrointestinal dysmotility and immune dysfunction highlights a new mechanism of disease.

Maharaj Avinaash , Ishida Miho , Rybak Anna , Elfeky Reem , Andrews Afiya , McGuffin Liam , Hwa Vivian , Storr Helen

Background: Defects in growth hormone (GH) action account for a substantial percentage of endocrine causes of growth restriction but are frequently unrecognised due to wide clinical and biochemical variability. We report five probands from three families who present with short stature, features of atypical growth hormone insensitivity (GHI), immune dysfunction, atopic eczema, and gastrointestinal pathology associated with novel recessive variants in a new gene...

hrp0089p3-p142 | Fat, Metabolism and Obesity P3 | ESPE2018

Osse Registry for Patients with Lipodystrophy Run by the European Consortium of Lipodystrophy (ECLip)

von Schnurbein Julia , Schaaf Jannik , Cecarini Giovanni , Vantyghem Marie-Christine , Vatier Camille , Nagel Gabriele , Araujo-Vilar David , Wabitsch Martin

Introduction: The term lipodystrophy describes a rare disease subdivided into a heterogenous group of even rarer subforms. The rarity of this disease makes research in this area extremely difficult and international co-operation is mandatory to accumulate data sets of sufficient size. The European Consortium of Lipodystrophy (ECLip) consisting of an association of European experts in the field of lipodystrophy has therefore decided to set up a registry for patients with lipody...

hrp0082p1-d2-219 | Reproduction (1) | ESPE2014

Mutation Analysis of the KISS1, KISS1R, LIN28A, LIN28B, TAC3, and TACR3 Genes in Girls with Central Precocious Puberty

Kim Yoo-Mi , Hye Kim Ja , Hyang Cho Ja , Choi Jin-Ho , Yoo Han-Wook

Background: Central precocious puberty (CPP) is mostly idiopathic, however, familial cases of CPP and evidence of genetic factors on pubertal timing by genome-wide association studies suggested genetic causes of CPP.Objective and hypotheses: Molecular defects in six genes (KISS1, KISS1R, LIN28A, LIN28B, TAC3, and TACR3) have been known to cause early activation of the hypothalamic-pituitary–gonad...

hrp0082p2-d1-450 | Growth | ESPE2014

Identification of NPR2 Mutations in Disproportionate Short Stature

Hisado-Oliva Alfonso , Benito-Sanz Sara , Belinchon Alberta , Vallespin Elena , del Pozo Angela , Barreda-Bonis Ana C. , Ramirez Joaquin , Luzuriaga Cristina , Gonzalez-Casado Isabel , Campos-Barros Angel , Heath Karen E.

Background: Homozygous natriuretic peptide receptor-2 (NPR2) mutations cause acromesomelic dysplasia, type Maroteaux, a skeletal dysplasia with extreme disproportionate short stature and recently, heterozygous NPR2 mutations have been identified also in patients with idiopathic short stature (ISS, 2–6%). SHOX mutations are found in ~2–5% of ISS cases and ~70% of Léri-Weill dyschondrosteosis (LWD) cases, characterized by disproportionat...

hrp0098fc2.3 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Molecular mechanism of FBN1 variants result to acromicric dysplasia by mechano-transduction

Chen Qingqing , Zou Chaochun , Wang Chunling

Acromicric dysplasia AD)is a relatively rare congenital disease characterized by server short stature、short extremities、and progressive joint limitation. The skeletal dysplasia significantly affects the physical and mental health of children and adolescents. FBN1 heterozygous point mutations in TB5 domain have been proposed as the predominant cause of AD. While upregulation of TGF-β signaling has been proposed as the underlying molecular mech...

hrp0092fc3.2 | Multi-system Endocrine Disorders | ESPE2019

CFTR Loss-of-Function has Effects on microRNAs (miRNAs) that Regulate Genes Involved in Growth, Glucose Metabolism and in Fertility in in vitro Models of Cystic Fibrosis

Cirillo Francesca , Catellani Cecilia , Graziano Sara , Montanini Luisa , Smerieri Arianna , Lazzeroni Pietro , Sartori Chiara , Marmiroli Nelson , Amarri Sergio , Gullì Mariolina , Elisabeth Street Maria

Cystic Fibrosis (CF), is due to CF-transmembrane-conductance-regulator (CFTR) loss-of-function. Significant heterogeneity exists between patients, suggesting potential epigenetic regulation, and comorbidities develop with time. MiRNAs are non-coding RNAs that act as epigenetic regulators. Although many studies have focused on the role for miRNAs in regulating CFTR gene expression, little attention has been given to how CFTR influences their expression and how this affects grow...

hrp0098p1-182 | Pituitary, Neuroendocrinology and Puberty 3 | ESPE2024

A description of a national meeting for hypothalamo-pituitary-axis-tumours

Padraig Finn Bryan , Bosch Laura , Morillon Paul , Perelberg Daniel , Cerbone Manuela , Spoudeas Helen , Gan Hoong-Wei

Introduction: Central nervous system tumours are the second most commonly encountered malignancy in children with 35 cases/million/year (1). However, only 10% affect the suprasellar/intrasellar region, which limits experience of such cases in any one centre. Multidisciplinary team meetings (MDT) are a well-recognised approach to obtain expertise beyond a single clinical site. Such meetings are often used to support diagnosis, investigation and management resul...