ESPE Abstracts

Introduction: Disorder of sex development (DSD) is a challenging condition confronting the patients, their relatives and the clinicians. It is more challenging when this disorder is associated with other extra-genital malformations. This makes their overall management more complex than if they just had DSD. Moreover, some of them have disturbed testicular function.Aim of the work: this work aimed at clinical review of 9 ...

Background: Topical steroids are commonly used in clinical practice for management of dermatological diseases. Clobetasol propionate is the most potent. They are systemically absorbed and may cause adverse side effects due to improper and prolonged use, such as iatrogenic Cushing's syndrome and adrenal insufficiency due to suppression of hypothalamic-pituitary-adrenal axis.Case presentation: A 7-month-old boy referre...

Introduction: Aldosterone synthase deficiency (ASD), also known as Corticosterone methyloxidase deficiency, is a rare autosomal recessive disorder characterized by severe hyperkalemia, salt loss, vomiting, severe dehydration and failure to thrive. It is caused by inactivating mutations of the CYP11B2 gene. We herein report the first confirmed Egyptian infant who had clinical and hormonal features of aldosterone synthase deficiency. Unexpectedly, our p...

We evaluated the linear growth and some endocrine function in 10 adolescents with Thalassemia Intermedia (TI) followed at Hematology Section, Doha (Qatar) in relation to the liver iron content (LIC).Patients and Methods: This retrospective cohort study was performed on 10 adolescents with TI who were randomly selected from the Hematology clinic, National Centre for Cancer Care and Research, Hamad Medical Corporation of Doha (Qatar). 8 in...

Background: Relatively little is known about endocrine function, bone mineral health, and growth during oral iron chelation therapy (OIC) in β-thalassemia major patients (BMT) on treatment with deferasirox.Aims of the study: To measure the final adult standing height (FA-Ht) and the frequency of endocrine complications in relation to their liver iron content (LIC) and insulin-like growth factor 1 (IGF-I) concentration. Patients were grouped into two...

Background: Relatively little is known about endocrine function, bone mineral health, and growth during oral iron chelation therapy (OIC) in β-thalassemia major patients (BMT) on treatment with deferasirox.Aims of the study: To measure the final adult standing height (FA-Ht) and the frequency of endocrine complications in relation to their liver iron content (LIC) and insulin-like growth factor 1 (IGF-I) concentration. Patients were grouped into two...

We evaluated the final height and the endocrine complications encountered in young adult patients with Thalassemia Intermedia (TI) followed at Hematology Section, Doha (Qatar) in relation to the liver iron content (LIC) in non-transfused versus infrequently transfused TI patients.Patients and Methods: This retrospective cohort study was performed on 28 young adults with TI who were randomly selected from the Hematology clinic, National C...

Background: Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive disorder, due to mutations in the leukemia inhibitory factor receptor (LIFR) gene. It is characterized by bowed-long bones, joint restrictions, dysautonomia, respiratory and feeding difficulties leading to death during infancy. In SWS survivors beyond 2 years of age, orthopedic problems are the main concern e.g. spinal deformations, osteoporosis and recurrent spontaneous fra...

Background: Congenital Central Hypoventilation Syndrome (CCHS) is a rare disorder of respiratory control resulting from heterozygous polyalanine repeat expansions within the Paired-Like Homeobox 2B (PHOX2B) gene. A hypoglycaemic seizure in a 4-year-old girl with CCHS, lead to a more detailed examination of glycaemic control in a cohort of children with CCHS.Objective: To describe glucose homeostasis in children with CCHS.M...

Background: Prader-Willi Syndrome (PWS) is a complex genetic disorder characterised by developmental and growth abnormalities, insatiable appetite, and excessive eating (hyperphagia). Hyperphagia is thought to be driven by supraphysiological levels of the appetite stimulating hormone ghrelin; however, the underlying causes of hyperghrelinaemia in PWS are currently unknown. Recently, ghrelin-reactive autoantibodies (isotype IgG) were identified in non-genetic obesity and were f...