hrp0089p2-p208 | GH & IGFs P2 | ESPE2018

A Novel, Synonymous, Heterozygous, Splicing Variant Affecting the Intracellular Domain of the Growth Hormone Receptor: Causality for Mild Growth Impairment and IGF-I Deficiency in an Affected Patient?

Efthymiadou Alexandra , Papanastasiou Anastasios , Zarkadis Ioannis , Hwa Vivian , Chrysis Dionysios

Introduction: Although the majority of Growth Hormone insensitivity syndrome (GHIS) cases are classical, the spectrum of clinical phenotypes has expanded to include ‘atypical’ GHIS subjects with milder phenotypes due to very rare heterozygous GHR mutations with dominant negative effects.Case description: A 13 year old pubertal boy was presented with short stature (−1.7SD) and delayed bone age (11 6/12). Final adult height was &#8...

hrp0086rfc3.2 | Pituitary | ESPE2016

Subfertility After Chemotherapy in PNET Tumours: 34 year Experience from a Single Centre (1980–2013)

Serra-Caetano Joana , Pandalai Soumya , Phipps Kim , Spoudeas Helen Alexandra

Background: PanEuropean(SIOP) trials of treatment for childhood brain cancers (medulloblastomas/PNET) showed a 5% survival advantage with ‘sandwich’ gonadotoxic chemotherapy (CT) over surgical excision, neuraxial radiation and tumour boost (RT) alone. But this was tempered by a reduced quality of survival at 7 years.Objective: To assess the long term prevalence of subfertility after CT with/without neuraxial radiation.<p class="a...

hrp0082p2-d2-542 | Puberty and Neuroendocrinology (1) | ESPE2014

GH Excess and Pseudoprecocious Puberty in a 8-Year-Old Boy with Mccune–Albright Syndrome

Ertl Diana-Alexandra , Gojo Johannes , Aubrunner Daniela , Haeusler Gabriele

Background: McCune–Albright syndrome (MAS) is defined by skin, bone and glands disorders, due to activating mutations in the GNAS1. Clinical presentation is heterogeneous. Reports about GH excess in MAS patients are scarce.Case report: We present the case of an 8-year-old male, previously diagnosed with mono-ostotic fibrous dysplasia of the skull, referred due to signs of pubertal development since the age of 6. The patient presented only 1...

hrp0084p2-187 | Adrenals | ESPE2015

A Large Family with a Novel Mutation in the SCNN1A Gene Causing a Mild and Transient form of Autosomal Recessive Pseudohypoaldosteronism Type 1 (PHA1)

Efthymiadou Alexandra , Sertedaki Amalia , Chrousos George , Chrysis Dionisios

Background: PHA1 is a rare inherited disease characterized by resistance to aldosterone action and distinguished in two forms: the autosomal dominant renal form caused by mutations of the NR3C2 gene (MR) and the autosomal recessive systemic form caused by mutations of the subunit genes SCNN1A, SCNN1B, SCNN1G of the epithelial sodium channel (ENaC). The classic phenotype of the autosomal recessive form of PHA1 is usually severe, lifelong, and expressed with mu...

hrp0084p2-577 | Thyroid | ESPE2015

Osteoprotegerin and fT4 Levels in Subclinical Hypothyroidism of Childhood

Giannakopoulos Aristeidis , Katsantoni Elena , Efthymiadou Alexandra , Kritikou Dimitra , Chrysis Dionisios

Background: Osteoprotegerin (OPG) is a cytokine of the tumour necrosis factor receptor family, expressed in various cells types of the body including osteoblasts and endothelial cells. It acts as a soluble decoy receptor of RANK ligand preventing stimulation of osteoclastogenesis. In adults, subclinical hypothyroidism (SH) has been associated with cardiovascular complications. Furthermore several studies have linked OPG levels to increased cardiovascular risk.<p class="abs...

hrp0084p3-596 | Adrenals | ESPE2015

Transient Pseudohypoaldosteronism as a Complication of Infected Obstructive Uropathy in Infancy, a Case Series

Da Costa Alexandra Rodrigues , Glew Simon , Fonseka Geetha , Ismail Dunia

Background: Pseudohypoaldosteronism is a rare condition of renal or systemic resistance to aldosterone, divisible into separate clinical presentations, each with a distinct physiological and genetic basis. Transient pseudohypoaldosteronism is a secondary form, characterised by reduced glomerulofiltration rate. It has been described in infants with obstructive uropathy and urinary tract infections.Method: We present five cases, presenting in infancy with ...

hrp0084p3-1047 | Growth | ESPE2015

Congenital Heart Disease and its Effects on Growth in Children

Puiu Ileana , Maria Veronica Elena , Puiu Alexandra Oltea

Background: Children with congenital heart disease (CHD) are predisposed to growth failure, due to the decreased intake of nutrients and also due to the increased energy requirements. Growth failure represents a frequent cause of increase of both morbidity and mortality in children with CHD.Objective and hypotheses: Assessment of physical development in children with CHD and identification of significant factors that influence z scores.<p class="abst...

hrp0094p1-74 | Fetal Endocrinology and Multisystem Disorders A | ESPE2021

Pancreatic glucagon-like-peptide-1 receptor expression in congenital hyperinsulinism

Gubaeva Diliara , Proshchina Alexandra , Krivova Yuliya , Melikyan Maria ,

Background: Congenital hyperinsulinism (CHI) is the most common cause of neonatal persistent hypoglycaemia. Current treatment lacks efficiency, and so are methods for differential diagnosis of diffuse and focal histological forms. Novel diagnostic and treatment approaches with the use of another hormone – glucagon-like-peptide-1 (GLP-1) – have been developed. GLP-1 is one of the key factors for maintaining euglycaemia. It stimulates insulin secretion...

hrp0097p2-57 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Heterozygous mutations in SETD5 are associated with bone fragility

Blaschitz Alexandra , Aischwarya Rao Avula , Castiglioni Claudia , Balasubramanian Meena

Background: SET domain-containing 5 (SETD5) is an uncharacterized member of the protein lysine methyltransferase family, a group best known for its ability to methylate their substrate and, by that, regulate gene expression. Heterozygous pathogenic variants in SETD5 are known to cause neurodevelopmental delay. We present two children with pathogenic variants in SETD5 and vertebral fractures with low bone mass. Individual 1 This 15-year old male of Caucasian an...

hrp0098rfc9.2 | Sex Endocrinology and Gonads | ESPE2024

Effects of the modified release hydrocortisone preparation Efmody® on hormones, spermatogenesis and body weight in males with congenital adrenal hyperplasia

Rohayem Julia , Vorona Elena , Holterhus Paul-Martin , Kulle Alexandra

Background: Hormone replacement in congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) aims at mimicking the physiologic secretion patterns of cortisol and aldosterone. However, available glucocorticoid preparations do not allow to achieve an adequate cortisol peak during the early morning hours, a milder peak during the evening, and low cortisol serum levels at night. As a consequence, intermittent ACTH hypersecretion may induce the...