ESPE Abstracts

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: There is controversy regarding cognitive affection in patients with congenital adrenal hyperplasia (CAH).Objective and hypotheses: Assess cognitive functions in children with CAH, and their relation to hydrocortisone (HC) therapy and testosterone level.Method: Thirty children with CAH due to 21 hydroxylase deficiency were compared with 20 age and sex matched healthy controls. Hydrocortisone daily dose and cumulative dos...

Background: The prevalence of maturity-onset diabetes of the young (MODY) in Saudi population remains unknown and data on molecular etiology of this condition is limited.Objective and hypotheses: The present study was undertaken to elucidate the clinical and molecular characteristics of a Saudi family with MODY1.Method: A 12-year-old female presented to us with symptoms suggestive of diabetes. Investigations revealed hyperglycemia,...

Background: Precocious puberty is defined as pubertal development that begins at an earlier age than expected; most paediatric endocrinology subspecialists use cutoff ages of 8 years for girls and 9 years for boys.Objective and hypotheses: We reported in this case, rare association between type 1 diabetes mellitus and precocious puberty.Method: We present a girl with type 1 diabetes developed at the age of 3 years, with good glycae...

Background: Mutations in CYP19A1 gene have been described in both females and males and to date only 20 cases with aromatase deficiency have been reported. In newborns, aromatase deficiency should be considered in the aetiology of 46, XX DSD, after ruling out congenital adrenal hyperplasia.Objective and hypotheses: Report of a case with CYP19A1 mutation.Method: Here we report a patient who was presenting at the age of 20 years old ...

Introduction: Post-operative management of fluid and electrolyte imbalance after surgery for pituitary or suprasellar tumors could be challenging. Post-operative course could include diabetes insipidus (DI) (transient or permanent) or a classical triphasic response (initial phase of DI followed by a second phase of transient SIADH and third and final phase of permanent DI). Mainstay of management of SIADH in these patients involves fluid restriction. At times,...

Central diabetes insipidus (CDI) is the end result of a number of disorders that affect the hypothalamic-neurohypophyseal region (HPR). The diagnosis of the underlying condition despite the use of new biochemical parameters including copetin is challenging and raises several concerns for patients and parents as it requires long-term follow-up. Thus, a proper etiological diagnosis can be achieved via a series of steps that start with clinical observations and then progress to m...

Background: The etiology of bone disease in thalassemic patients is multifactorial. Factors such as hormonal deficiency (especially gonadal failure), bone marrow expansion, increased iron stores, desferioxamine toxicity, calcium, and vitamin D deficiency seem to have a serious impact on impaired bone metabolism in this disease.Objectives: To estimate the frequency of calcium homeostasis abnormalities in adolescent thalassemic patients, and to investigate...

Introduction: MRI imaging is the technique of choice in the diagnosis of children with hypopituitarism. Marked differences in MRI pituitary gland morphology suggest different etiologies of GHD, different clinical and endocrine outcome and different prognoses.Objective: To investigate the auxological, clinical and hypothalamic pituitary-MRI features in children with non-acquired growth hormone deficiency (GHD); and determ...

Bardet-Biedl syndrome (BBS) is a multiorgan genetic disease which is a part of ciliopathies. The HAS (Haute Autorité de santé) published in March 2019 a new National Diagnostic and Care Protocol for Bardet Biedl syndrome. However, in practice, we face the difficulties of screening and multidisciplinary care of different complications.We report our experience with siblings composed of an eight-year-old boy and an 18-month-old girl suffering from...