ESPE Abstracts

Case Report: A 5-month-old girl born to first-cousin parents was referred to endocrinology for evaluation following two hospitalizations for vomiting and dehydration with severe hyponatremia and hyperkalemia. She had a history of recurrent emesis and poor weight gain, with a reportedly normal abdominal and renal ultrasound.Initial evaluation showed hyponatremia with elevated renin 170 ng/ml/hr (normal 2-37 ng/ml/hr) and aldosterone 275 n...

Background: Resistance to thyroid hormone (RTH) is a rare clinical syndrome characterized by end organ resistance due to mutations in the thyroid hormone receptor (THRB) gene. The combination of RTH and congenital hypothyroidism (associated with thyroid agenesis or ectopic gland) has been reported in at least 6 genetically proven cases.Case report: We report an 8-year-old girl, diagnosed with congenital hypothyroidism at...

Background: Neoplastic causes of precocious puberty include brain, gonadal, adrenal and germ cell tumors; hepatoblastoma (HB) is only rarely noted [1,2]. HB, is a rare primary hepatic tumor of childhood [3]. It is accompanied by raised levels of alpha-fetoprotein (α-FP). Rarely, beta-human chorionic gonadotropin (β-hCG) levels are elevated, resulting in peripheral precocious puberty (PPP).Clinical Case: We pre...

Introduction: Optimal height during pediatric and adolescent growth is a significant factor affecting a child's self-esteem and future outcomes. Aromatase Inhibitors such as Anastrozole are utilized to enhance final adult height in peripubertal boys by impeding the conversion of androgens to estrogens, a critical process in growth plate closure. However, concerns have been raised about the potential adverse effect of aromatase inhibitors on bone health, a...

Introduction: Accurate height monitoring is crucial in pediatrics for assessing growth, development, nutritional status, and managing medical conditions. The traditional stadiometer, while the gold standard for height measurement, is limited by bulkiness, lack of portability, and the need for trained personnel. These challenges have spurred exploration into alternative methods. Apple's "Measure" App, utilizing the iPhone's camera and LiDAR ...

Objective: To present the spectrum of monogenic obesity presenting to a tertiary children’s hospital in UAEIntroduction: Monogenic obesity is increasingly recognized as a cause of severe early-onset obesity. Monogenic obesity syndromes arise from single gene mutations affecting critical for regulation of body weight and energy balance. Children with monogenic obesity often experience severe, early-onset weight gain...

Background: Exposure to intrauterine adrenocortical tumors (IATs) is an exceedingly rare of virilization in females. We present the case of a virilized female infant, born after diagnosis of a maternal adrenocortical tumor, diagnosed in pregnancy. To the best of our knowledge, this is the first such case to be reported.Case Presentation: The mother conceived a dichorionic diamniotic twin pregnancy following clomiphene in...

We present a 13-year old boy, who presented with acute testicular pain. Examination revealed bulky, nodular testicular enlargement. Testicular ultrasound showed multifocal, hyperechoic, calcified masses in both testes, characteristic of large cell calcifying Sertoli cell tumours (LCCSCTs), following which he was referred to endocrinology. He had a history of benign skin tags and a previous chest wall tumour, confirmed as a lipoblastoma on histology. Physical examination showed...

Spondyloepimetaphyseal dysplasias (SEMDs), predominantly associated with disproportionate short stature, comprise a heterogeneous group of autosomal-dominant, autosomal-recessive, and X-linked recessive skeletal dysplasias caused by pathogenic variants in several genes. Here we characterize a distinct form of skeletal dysplasia in 4 individuals from 3 unrelated Emirati families. Through whole exome sequencing, we identify a novel homozygous missense variant (c.1376A>C; p.As...

Introduction: Short stature (SS) is one of the most common reasons for referral to a pediatric endocrinologist. SS is defined as a condition in which an individual's height is below the 3rd percentile for age and sex. SS may be caused by hormonal (eg. growth hormone deficiency), environmental (eg. intrauterine growth retardation) and genetic disorders (eg. Turner syndrome, Noonan syndrome). The evaluation of children presenting with SS comprises detailed ...