ESPE Abstracts

Background: The rs72613567:TA variant in the hydroxysteroid 17-beta dehydrogenase 13 (HSD17B13) gene has been associated with decreased risk of liver damage.Aims: To investigate the association between the HSD17B13 rs72613567:TA variant and both hepatic steatosis and biochemical markers of liver damage in obese children and to evaluate its potential effect in NAFLD genetic predisposition.<p...

Background: The patatin like phospholipase containing domain 3 (PNPLA3) I148M polymorphism has an effect on modulation of estimated glomerular filtration rate (eGFR) in non-obese non-diabetic adults and in children with histologically confirmed Non-Alcoholic Fatty Liver Disease (NAFLD).Objectives: To explored the impact of PNPLA3 I148M polymorphism on eGFR in obese children with and without NAFLD.<p class="a...

Pheochromocytoma (PCC) is a rare tumor arising from the adrenal medulla as well as extra-adrenal paraganglion system and secreting catecholamines causing severe hypertension in children. The gold standard for diagnosis is the measurement of free plasma levels of metanephrines while management evaluates the location and size of the tumor and possible metastatic lesions. Preoperative treatment with alpha blockers, beta blockers and tyrosine hydroxylase inhibitors improves safety...

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders resulting from deficiency of one of the enzymes required for synthesis of cortisol in the adrenal cortex. The most common form of the disease is classic 21-hydroxylase deficiency, which is characterized by decreased synthesis of glucocorticoids and often mineralocorticoids, adrenal hyperandrogenism and impaired development and function of the adrenal medulla. The clinical management of classic 21-...

Objective: Oral hydrocortisone medication for Congenital Adrenal Hyperplasia (CAH) could lead to suboptimal blood cortisol levels throughout the day. In addition, the HPA-axis is rendered inflexible in patients. Cortisol is crucially involved in the stress response as well as in generating and regulating emotional responses to stimuli. Sub-optimal cortisol levels, in combination with a less flexible HPA-axis, could therefore lead to problems with emotion regul...

Introduction: The SLC34A1 gene encodes the NaPi-IIa cotransporter, which plays an important role in phosphate reabsorption in the kidney proximal tubule. Inactivating mutations of this gene cause nephrolithiasis and osteoporosis, together with clinical pictures such as hypophosphatemic rickets type 1, Fanconi renotubular syndrome type 2, and infantile hypercalcemia type 2.Case: A 40-day-old male patient presented with me...

Here we describe a 10 week old previously healthy infant that underwent several severe adrenal crises marked by electrolyte disturbances (K=7.8 Na=128), and cardiorespiratory resuscitation (intubation and pressors). The adrenal insufficiency developed while admitted after developing a short febrile illness, and severe prolonged watery diarrhea, accompanied by development mild hypertransaminasemia and rash. Crises were characterized by elevated Renin 119 mU/l [Ref: 3.4-64], ina...

Introduction: Ceratonia siliqua L. (CS) is from the legumes (Fabaceae) family, and different forms such as carob extract and flour are preferred by parents because it is a natural sweetener and a source of vegetable carbohydrates. CS is rich in polyphenols and flavonoids. When we questioned histories of the cases of early puberty and puberty variants who applied to our clinic, we noticed long-term and regular use in some cases. We planned to experimen...

Background: Mutations in the RET gene have been described in subjects with multiple endocrine neoplasia Type 2 (MEN 2A). MEN 2A is a rare autosomal dominant disorder characterized by tumors of the C cells of the thyroid, adrenal medulla and parathyroid glands. Patients develop either C-cell hyperplasia or medullary thyroid cancer, pheochromocytoma, and in some cases hyperparathyroidism.Objective/Method: To descr...

The homeostatic control of energy balance is tightly regulated. Appetite and energy expenditure regulation involves neurons in the hypothalamus as well as other brain regions, including the limbic system, amygdala and the brainstem. Hypothalamic obesity is a well-recognized consequence of lesions such as craniopharyngiomas and other tumors in the hypothalamic region. Less known is obesity related to tumors in other brain regions. The child presented at 14 years of age with fai...