ESPE Abstracts

Objective: The purpose of this study was to describe baseline data on etiological diagnosis of Disorders of Sex Development (DSD) in Kenyan children and adolescents.Methods: This retrospective study included 71 patients diagnosed with DSD who presented at ages 0–19 years from January 2008 to December 2015 at the Kenyatta National (KNH) and Gertrude’s Children’s (GCH) Hospitals.Results: Thirty-nine (54.9%) children ha...

Study Objective: To describe the clinical presentation and characteristics of DSD in Kenyan children and adolescents.Methodology: This retrospective observational study was carried out at Kenyatta National hospital and Gertrude’s Children’s Hospitals involving 71 patients age 0–19 years with DSD enrolled in the clinics between January 2008 to December 2015.Results: The mean age at the time of diagnosis was 2.7 years ...

Introduction: Hyperostosis-hyperphosphataemia syndrome (HHS) is a rare autosomal recessive condition caused by inactivating mutations in the GALNT3 gene, characterised by elevated serum phosphate and 1,25(OH)2 vitamin D, increased urinary tubular reabsorption of phosphate and hyperostosis of long bones.Case report: A 15-year-old boy (weight +1.05 SD; height −0.1 SD) with consanguineous parents of Palestinian descent, presented w...

Background: Vitamin D deficiency has been found to occur in peoples of all ages worldwide, including those living in sunny climates. Sun exposure is the main source of this vitamin for many people but its utilization is influenced by many factors such as lifestyles and availability of sunlight. The breastfeeding infant is particularly at increased risk of deficiency because of its dependence on maternal stores.Objective and hypotheses: The hypothesis for...

Introduction: The prevalence of diabetes in Trinidad and Tobago (T&T) exceeds 12%. Monitoring of HbA1c is standard of care to assess diabetes control but assay reliability requires high precision and standardization to either DCCT or IFCC values and results should be monitored through proficiency testing (PT). In T&T a developing country there is no existing data on HbA1c precision and accuracy. Johns Hopkins Medicine International and the Diabetes Diagnostic Laborator...

Background: The incidence of perinatal stress hyperinsulinism (PSHI) requiring diazoxide treatment is estimated to be 1:12,000 (Hoe et al., 2006). Diazoxide is used to treat PSHI, but it has been shown to have adverse effects including pulmonary hypertension. Gray et al, reported that of 1.25 million infants admitted to NICUs for hypoglycemia over a period of 18 years, only 1066 received diazoxide suggesting 1:1172 babies had HI however 92% o...

Background: There is significant disparity in pediatric endocrinology and diabetes care between developed countries and developing countries. Over the years nevertheless, the diagnosis and management of pediatric endocrine conditions has improved. However, there is paucity of data on clinical presentation and incidence trend amongst pediatric endocrine conditions in sub-Saharan Africa.Methods: A hospital-based retrospect...

Background: Diseases of sex development (DSD) are rare heterogeneous disorders ranging from infertility (an estimated 15% of couples worldwide have difficulty conceiving), to severe cases including ambiguous genitalia, sex reversal, and gonadal dysgenesis. The genetic basis of DSD remains unknown in 50% of the severe cases. To identify novel genetic causes of DSD, we are investigating patients in which known causative genes have been excluded. Identifying new ...

Lonapegsomatropin (TransCon hGH) is an investigational once-weekly prodrug of somatropin for the treatment of GHD. Previous trials in treatment-naïve (52-week heiGHt Trial) and treatment-experienced children (26-week fliGHt Trial) have reported the efficacy and safety of lonapegsomatropin. Subjects were eligible to enter the open-label extension enliGHten Trial, which continues to evaluate weekly lonapegsomatropin in pediatric GHD. In heiGHt, treatment-naïve subjects...

Duplicated pituitary gland in association with other midline craniofacial anomalies – also described as DPG-plus syndrome – is extremely rare. So far the only described endocrine associations are precocious or delayed puberty. We describe the multifaceted management of a female infant with DPG-plus syndrome. Interestingly, the patient also presented with trans-cranial nasal dermoid cyst and a nasal dimple with protruding hair, which has not been described in previous...