ESPE Abstracts

Background: Brain-Lung-Thyroid (BLT) syndrome (OMIM# 610978) is characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS), and benign hereditary chorea and is caused by thyroid transcription factor 1 (NKX2-1/TTF1) haploinsufficiency. The phenotype can be partial or complete and there is a large phenotypic variability.Objectives and hypotheses: Identify new genes in a selected group of patients presenting thyroi...

Background: Hypothalamic-Pituitary–Adrenal (HPA) axis suppression is common during inhaled corticosteroid (ICS) treatment of asthma, and deaths due to adrenal crisis are described. Little is known about the optimal treatment or recovery of ICS induced HPA axis suppression.Aims: To describe the treatment and outcomes of children with ICS induced HPA suppression diagnosed on the low dose short Synacthen test (LDSST).Method: The ...

Background: Childhood obesity is recognized as a chronic illness with limited therapeutic options. Addressing this condition through lifestyle interventions has proven to be challenging, particularly for adolescents, with only minimal outcomes observed. The use of GLP-1 agonists (such as Liraglutide) for reducing body weight in pediatric patients has yielded conflicting results. To date, no studies conducted in the Middle East have reported on the outcomes of ...

Introduction: Congenital Adrenal Hyperplasia (CAH) is a chronic disease that requires life-long hormonal replacement therapy. Growth of patients with CAH can be affected by this therapy or the hyperandrogenic effect of the disease. In this study, we aimed to assess the potential effect of CAH and its therapy on final height in Saudi affected patients.Methodology: This is a retrospective cohort study from two tertiary end...

Background: Gonadal hyperfunction is the most frequent endocrine dysfunction in females with McCune–Albright syndrome (MAS), and precocious puberty (PP) is usually the first manifestation of MAS in children.Objective and hypotheses: The optimal pharmacologic treatment of PP in girls with MAS has not been yet identified and new therapeutic options like anti-estrogen should be taken under consideration especially in patients with extreme high estradio...

Background: One of the crucial aspects of the management of disorders of sex development is the assessment of the risk of malignant transformation of a dysgenetic gonad.Objective and hypotheses: The PCR analysis of germ-cell risk factors as the presence of the TSPY gene may be helpful in decision making of an early gonadectomy.Results: We report a 46,Xdel(Y)p11.3 girl with gonadal dysgenesis, that was referred to the Depar...

Background: The association of intrauterine growth restriction (IUGR), adrenal insufficiency and gonadal dysgenesis is well recognised. Some children have been reported to develop monosomy 7 and myelodysplasia. However, the genetic basis of this condition was poorly understood.Objective and hypotheses: Our aim was to investigate the genetic basis of eight children with IUGR, adrenal insufficiency and gonadal failure and additional features including seve...

Context: Monogenic obesity (MO) is a rare form of obesity due to pathogenic variants in genes implicated in the leptin-melanocortin signaling pathway and accounts for around 5% of severe early-onset obesity. Mutations in the MC4R and Leptin genes are the commonest causes of MO. Determining the genetic causes has important clinical benefits as novel therapeutic interventions were developed for some forms of MO.Objective:<...

Introduction: The growing pandemic of type 1 diabetes is considered as an enormous multifactorial public health challenge in the world. Many targeted interventions should be provided to improve type 1 diabetes management especially during childhood and adolescence.The purpose of this study is to elucidate the epidemiological, clinical and management profile of type 1 diabetes in Moroccan children and adolescents followed up in t...

Background and objective: Given phenotype variability as well as limited utility of conventional endocrine investigations in reaching the diagnosis in a 46,XY patient suspected of a disorder of sex development (DSD), there is an increasingly stronger argument for considering targeted genetic sequencing at an earlier stage of the evaluation process. This study focused on identifying the relationship between clinical examination, endocrine and radiological assessment, as well as...