ESPE Abstracts

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...

Background: Brain tumours constitute the second most common tumours in childhood after leukaemia. Infra-tentorial tumours are more common. Most of the supra-tentorial tumours (STT) are in the supra or para-sellar regions. Malignant tumours are rare. The survival is 50–90% with appropriate management. However, STT and/or treatment may lead to traumatic brain injury (TBI) with endocrinopathic sequel.Methods: This is a retrospective hospital based stud...

Introduction: Adrenal insufficiency can be caused by different factors. Biotin deficiency is either nutritional or related to synthesis/recycling defects. We are reporting a rare case of adrenal insufficiency complicating a late diagnosis of holocarboxylase synthetase deficiency in an infant who also had protein-S-deficiency, later thought to be secondary.Case: Term female infant born, to non-consanguineous parents, in good condition wit...

Background: Neonatal severe primary hyperparathyroidism (NSHPT, MIM 23900) is a potentially lethal autosomal recessive disorder characterized by severe hypercalcemia, markedly elevated serum PTH levels and skeletal abnormalities that include multiple fractures, demineralization and erosions. It is secondary to biallelic loss of function mutation in the CASR gene that encodes the calcium sensing receptor.Case presentation: We identified a 10-day old baby ...

Introduction: Fanconi-Bickel syndrome (FBS), is a rare autosomal recessive disorder of carbohydrate metabolism (FBS, OMIM 227810), caused by defects in the facilitative glucose transporter glut-2, which transports glucose in and out of hepatocytes, pancreatic β cells and basolateral membranes of intestinal and renal epithelial cells. Characteristic features include growth failure, hepatomegaly, glucose and galactose intolerance, fasting hypoglycemia, and renal tubular nep...

Introduction: Subclinical hypothyroidism (SH) is reported up to 20% of obese population and thyroid hormone replacement in these individuals are controversial. In this study, we aimed to determine the effect of thyroid hormones on basal metabolic rate (BMR) in obesity and, thyroid hormone replacement on BMH and weight in obese patients with SH.Method: The study was conducted in 31 obese children (15 of them had subclinical hypothyroidism) admitted to our...

Background: Hyponatremia is an electrolyte disorder, that may lead to severe complications such as rhabdomyolysis, seizures, coma, and death. Clinicians do take hyponatremia seriously. However sometimes clinicians should be careful in interpreting the low laboratory sodium level as it does not necessarily reflect the actual natremic status especially when the patient is euvolemic and having normal serum osmolality, for which pseudohyponatremia should be consid...

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...

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is an autosomal recessive disease in which adrenal synthesis of glucocorticoids and mineralocorticoids is impaired and steroid biosynthesis is directed toward the formation of excessive androgens. Persistently high androgens will accelerate bone maturation and reduce final adult height.Objectives: To assess the efficacy of androgen antagonist Flutamide and aromatase inhibitor Tastolact...

Background: Bisphenol A (BPA), a plastic byproduct, is a known endocrine disruptor and is types of cancers, such as prostate and ovaries, and some other health conditions, for instance diabetes and obesity. It has direct effect on reproductive system through its strong oestrogen agonist activity.Objective and hypotheses: BPA has a strong oestrogen agonist activity. And oestrogen antagonize cellular activity of growth hormone (GH), however, the effect of ...