ESPE Abstracts

Introduction: Brachydactyly is defined as shortening of metatarsal and metacarpal bones. There are different types of brachydactyly which can be isolated or associated with syndromes. The underlying gene defect has been identified in the majority of isolated brachydactylic and some syndromic forms. We herein report a Saudi male patient who presented with brachydactyly and short stature and found to have a rare form of skeletal dysplasia related to PTHLH gene m...

X-linked hypophosphataemia (XLH) is the most common form of inherited hypophosphataemic rickets, caused by loss-of-function mutations in the gene encoding phosphate-regulating endopeptidase homologue X-linked (PHEX), resulting in excess circulating fibroblast growth factor 23 (FGF-23).1,2 In children, clinical features include delayed walking, waddling gait, leg bowing, pain, spontaneous dental abscesses and growth failure. Current therapies do not treat the underly...

Background: The primary cause of calciopenic rickets is often vitamin D deficiency (VDD) or restricted calcium intake. It can also be caused by inactivation or resistance to vitamin D due to genetic mutations. Vitamin D genetic causes can present as early as 6 months of age in previous reports. We present here a 2-month-old baby with biochemical and radiological features highly suggestive of a metabolic bone disease likely genetic rickets. However, the baby al...

Background: Partial gonadal dysgenesis is a rare 46, XY Disorder of sex development (DSD) characterized by a varying degree of testicular dysgenesis, ambiguous genitalia, and persistence or absence of regression of Müllerian structures. Many studies examined the challenges in presentation and gender assignment regarding the genital features, genetic mutations and histopathological risks of dysgenetic gonads. More recently some studies described the long-term outcome of pa...

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: Puberty has a significant contribution to near final height and significant weight gaining in adolescents. Therefore, it is crucial to understand the normal growth variations in the onset and tempo of puberty in a specific population. In this study, we aim ed to provide normative data on weight and height in saudi adolescents.Methods: A nationwide population-based “Jeeluna = our adolescents’ pop...

Background: Paragnagliomas and pheochromocytomas are rare neuroendocrine tumors that originate from the paraganglionic cells of the autonomic nervous systems. These tumors may be extra or intra-adrenal in site. The use of antihypertensive medications is usually challenging in these patients. Long acting alpha and beta blockade can be quite useful preoperatively but challenging postoperatively. We present a case of familial paraganglioma that was successfully t...

Introduction: The Saudi National Diabetes Registry focuses mainly on adult patients. In 2020, the National Guard Health Authority (NGHA) launched the Saudi Pediatric and Youth Diabetes Registry (SPYDR), for children and adolescents with diabetes. We report on the first data and the challenges we faced during SPYDR initiation.Methods: Patients were identified from the electronic medical records of the Saudi NGHA hospitals...

Introduction: Sanjad-Sakati-Syndrome (SSS), or hypoparathyroidism-retardation-dysmorphism syndrome (HRDS), is primarily observed in individuals of Middle Eastern descent due to a recessive founder mutation in exon 3 of the TBCE gene. Little is known about disease evolution, endocrine features, management and cause of early death.Aim: To gain better understanding of growth, full phenotypic spectrum, endocrine fea...

Background: Data on FGF23-related Hypophosphatemic rickets (HR)/osteomalacia in GCC are sparse. This observational registry aims to collect data on the treatment, disease burden, progression, and long-term outcomes among patients with FGF23-related HR/osteomalacia in GCC, effectiveness and safety of treatments, quality of life and healthcare resource utilization.Methods: This multicenter registry aims to enroll 200 patie...