ESPE Abstracts

Background: Cerebrotendinous xanthomatosis (CTX) is a very rare autosomal recessive lipid storage disorder affecting bile acid biosynthesis. It is manifested by subtle neurological and non-neurological symptoms due to abnormal tissue lipid deposition. Usually, the diagnosis is delayed but early diagnosis and replacement therapy can prevent devastating neurological sequelae.Objective and hypotheses: To diagnose and manage a case of cerebrotendinous xantho...

Background: Van Wyk Grumbach Syndrome (VWGS) is a rare presentation of juvenile hypothyroidism which manifests in females as chronic autoimmune hypothyroidism, isosexual pseudo-precocious puberty and multicystic ovaries. It uniquely presents with short stature and delayed bone age unlike other causes of precocious puberty. Kocher-Debre-Smeglaine Syndrome (KDSS) is a rare presentation of juvenile hypothyroidism manifesting as calf muscle pseudo-hypertrophy, delayed contraction ...

Background: Over the last decade, and in light of the COVID-19 pandemic, there has been a substantial increase in the use of digital health tools to track growth and manage growth disorders in children. Paediatric endocrinologists acknowledge the usefulness of these tools in clinical decision making but lack confidence and skills to use them. Atique et al. designed a Massive Open Online Learning Course (MOOC) to increase digital health literacy, and identified...

Introduction: Hybrid diabetes is a challenging form od diabetes that need to be more studied. We describe a case of hybrid diabetes with a prolonged honeymoon due to the use of metformin.Case: Our patient is a 10 year old female patient who was diagnosed as type 2 DM on September 2017 at the age of 8 years. She was obese with BMI = 29.8 Kg/ m^2 with marked acanthosis nigricans. She had a patch of vitiligo on the face...

Background: There are inconsistencies in the results reported in a small number of previous studies into growth hormone (GH) treatment of short children with idiopathic short stature (ISS.Patients and Methods: Our study included 20 prepubertal (Tanner 1) or peri-pubertal (Tanner 2) children with short stature (HtSDS < -2) and/or HtSDS > 1SD below their mid parental height SD (MPHtSDS), slow Growth velocity( <...

Background: The honeymoon period of type 1 diabetes mellitus (DM1) is characterized by reduced insulin requirements to <0.5 Units/kg per day while maintaining good glycaemic control.Case study: Seven years old boy who was diagnosed with type 1 diabetes mellitus presented with history of polyuria, polydipsia and weight loss for 3 weeks duration. His random Blood glucose=408 mg/dl with initial HBA1C 12.7%. Family history was unremarkable for diabetes ...

Background: Different severities of bronchopulmonary dysplasia (BPD) may adversely affect postnatal growth of small preterm infants (PT).Objective: To measure postnatal growth data for 69 (39 F, 30 M) preterms with BPD.Method: We studied growth parameters of 69 PT with BPD for 16±3 months postnatally. 40 had mild, 20 had moderate and 9 had severe BPD.Results: 96% of infants were appropriate for gestation...

Background: The rate of direct genotype–phenotype correlation in 21 hydroxylase deficiency congenital adrenal hyperplasia (CAH) is <50%. We report two cases of genotype/phenotype non-concordance, which has been explained by gene sequencing.Family 1: in a non-consanguineous family of Irish, German, and Italian ethnicity there are five children. Two of the boys have hormonal evidence of CAH owing to 21-hydroxylase deficiency. The third boy has no ...

Background: Endothelial progenitor cells (EPCs) are involved in the regeneration of the endothelial lining following blood vessel injury. The reduction in the number of EPCs was postulated to be associated with the initiation and progression of cardiovascular disease.Objective and hypotheses: This study aimed at exploration of the number of EPCs in obese non-diabetic children and adolescents and their relation to the fasting lipid levels, fasting glucose...

Background: This is a case of an 18 year old phenotypic female of Bolivian origin with a 46,XY karyotype, uterus and menstruation with estrogen replacement. She was initially diagnosed with androgen insensitivity based on Leuprolide and HCG stimulation testing results. With menstruation, other etiologies are being considered.Case presentation: She presented with clitoromegaly and moderate posterior labial fusion (Prader III). Laboratory evaluation at 6&#...