ESPE Abstracts

Background: Turner syndrome (TS) is characterised cytogenetically by X chromosome monosomy, the presence of an abnormal X chromosome, or mosaicism of a 45,X or have an abnormal sex chromosome rearrangement. Girls with variant TS show no features, fewer or milder features of TS.Objective and hypotheses: We are reporting on a clinical report of a girl with a rare variant of TS (46,X,i(X) (q10)).Method: This is a case report of a 12-y...

Introduction: More than 1.1 million children and adolescents are living with Type 1 diabetes mellitus (T1DM) in 2019 worldwide1. Transition period is considered a crucial phase in management of T1DM, where movement of adolescents to adult health care is initiated. During this period, physical, psychological and behavioral changes may make this interval becoming more challenging by which diabetes management can be affected. HbA1c worsening was report...

Objective: Puberty has a significant contribution to different psychosocial wellbeing aspects. Hence; it is crucial to understand the normal variations in onset and tempo of puberty in a specific population. In this study, we aimed to provide normative data on timing of onset of puberty and age of menarche in Saudi schoolgirls in RiyadhMethods: This is a cross-sectional field study (2011-2013) including Saudi schoolgirls...

Introduction: NDM is a rare disease diagnosed in the first 12 months of life. It is either transient or permanent. Early recognition of mutation in KCNJ11 and ABCC8, which account for approximately 40% of NDM, is essential to consider oral sulfonylurea for responsiveness mutations.Aim: To study the efficacy and safety of oral sulfonylurea in a long-term follow-up (15 years) for the first successful switch from insulin to...

Abstract: We report the effect of different forms of dysglycemia on the occurrence of neonatal hypoglycemia in a large cohort of pregnant women studied as a part of a PEARL-Peristat Study, funded by QNRF- Doha-QatarMethods: Out of 12255 pregnant women screened during 2016-2017, 3027 women were identified with gestational diabetes (GDM) (WHO criteria) and 233 were diabetic (DM) before pregnancy. All dysglycemic women were...

Introduction: Several factors contribute to the risk of neonatal macrosomia (NM) and its associated hypoglycemia (NH) in pregnant women.Objective: To determine the prevalence of NM and its association with NH in a large cohort of normoglycemic and dysglycemic women.Methods: Out of 12255 pregnant women screened during 2016-2017, 3027 women were identified with gestational diabetes (...

Background: Autoimmune polyglandular syndrome type 3 (APS3) comprises a wide spectrum of autoimmune endocrine disorders other than adrenal insufficiency. It includes the association of autoimmune thyroid disease (ATD) with type 1 diabetes (T1D) which is known as APS3 variant (APSA3v). Genes linked to possible joint susceptibility for APS3v have been reported in few cases. We report a 10-year-old girl with Graves’ disease (GD) who developed T1D after 6 years of the diagnos...

Background: The commonest cause of 46, XX disorders of sex development (DSD) is congenital adrenal hyperplasia (CAH). We report two female virilised siblings with uncontrolled CAH who were reared as boys since birth. Different team members were involved in management. We discuss here gender reassignment and the psychosocial implications from Islamic perspectives.Case reports: An eight and 11 years old severely virilised CAH Yemeni girls were raised as bo...

Background: Congenital hyperinsulinism (CHI) represent a group of clinically and genetically heterogonous disorder that characterized by unregulated insulin secretion by B-cells. It is the most common cause of hypoglycaemia in the neonatal period. Infants with diffuse CHI have homozygous or compound heterozygous mutation in the KATP channel and the majority are unresponsive to standard medical therapy and eventually they need near total pancreatectomy. Recent data showed the e...

Introduction: Since diabetes mellitus is one of the major non-communicable diseases, therefore it is important taking this subject in some details during the undergraduate medical course, to prepare the students for recognizing the disease and understanding its management. In Sultan Qaboos University, the medical students go through a pre-internship training period, immediately after their final year of clerkship and just before starting their internship.<...