ESPE Abstracts

Background: Evaluation of the external genitalia is very important in the routine neonatal examination, since abnormalities of the genitalia give clues to underlying endocrine disorders or serious structural malformations. This is the first report regarding the stretched penile length (SPL) of newborns from Sri Lanka.Objective and hypotheses: The objectives of the study were to document the SPL of healthy term neonates born following an uncomplicated del...

Prader Willi Syndrome (PWS) is a rare neuro-genetic disorder inherited as a result of lack of expression in 15q11-13 gene and 70% are paternally inherited. Characteristic features are dysmorphism, behavioural problems, infantile hypotonia, short stature, hypothalamic dysfunction, hyperphagia and morbid obesity. The long-term morbidity and mortality depend on hypothalamic dysfunction and obesity. While multidisciplinary care is essential, growth hormone (GH) is a recognized...

Background: Childhood obesity is a growing global problem that linked with health issues including type II diabetes. Early screening and diagnosis using OGTT and/or HbA1c of obese children is recommended in order to minimize type II diabetic risk. OGTT requires fasting and two venesections impeding the child’s compliance. In contrast, hemoglobin A1c (HbA1c) is a convenient test and evaluation of HbA1C as a diagnostic tool of type II diabetes in the obese...

Background: Pseudohypoparathyroidism (PHP) is a rare condition with heterogeneous presentation. It is divided in various subgroups depending upon the manifestations. Type 1a Pseudohypoparathyroidism usually presents with brachydactyly, short stature along with other manifestations of Albright’s hereditary osteodystrophy (AHO) like obesity, mental retardation. The basic pathology is resistance to hormonal actions associated with G protein coupled receptors due defective GN...

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 ...