ESPE Abstracts

Introduction: Rapid-onset Obesity with Hypoventilation, Hypothalamic dysfunction and Autonomic Dysregulation (ROHHAD) recently named ROHHAD-NeuroEndocrine Tumors (ROHHAD-NET) syndrome is a rare cause of obesity in children. The diagnosis is challenging and can easily be confused with other causes of obesity.Case Report: We report a case of a six-year-old boy, referred to our clinic for hypernatremia. Six months ago, he s...

Introduction: Hirsutism is a condition defined as excessive male-pattern hair growth in females most commonly caused by hyperandrogenism. Polycystic ovary syndrome (PCOS), non-classic adrenal hyperplasia (NCAH) due to 21-hydroxylase deficiency and androgen-secreting tumors represent causes of androgen excess. Common features such as hirsutism, polycystic ovaries, oligomenorrhea or amenorrhea, and insulin resistance make it hard to distinguish between the first...

Brown tumor is a rare non-neoplastic focal giant cell lesion resulting due to increase osteolytic activity by excess of parathormone in cortical bone which is replaced by fibrovascular tissue, giant cells with hemorrhages and hemosiderin. It is a rare late stage bone sequelae of long standing hyperparathyroidism. Parathyroid adenoma is the commonest cause of primary hyperparathyroidism.We present a referred case of 15-year-old girl with highly aggressive...

Background: Ectopic thyroid tissue can be found anywhere along the normal path of thyroid descent, but is most commonly found at the base of the tongue, in which case it may be referred to as a lingual thyroid. Although the patients are usually asymptomatic, it can lead to symptoms such as dysphonia and dysphagia. We present a child patient with a lingual thyroid resulting in severe dysphagia that was cured surgically.Case presen...

Background: Congenital Central Hypoventilation Syndrome (CCHS) is a rare disorder of respiratory control resulting from heterozygous polyalanine repeat expansions within the Paired-Like Homeobox 2B (PHOX2B) gene. A hypoglycaemic seizure in a 4-year-old girl with CCHS, lead to a more detailed examination of glycaemic control in a cohort of children with CCHS.Objective: To describe glucose homeostasis in children with CCHS.M...

The electrolyte disorders are commonly considered as symptoms of the endocrine diseases concerning the secretion of aldosterone or antidiuretic hormone (ADH). This study is the case report of the 6-month-old girl admitted to the hospital because of the exacerbation of the chronic cough. Failure to thrive and malnutrition was also significant despite the patient’s good appetite reported by parents. She was referred to the department of the paediatric endocrinology due to m...

Background: The C3 epimer of 25-hydroxi-vitamin D3 (Epi25OHD3) is present in the pediatric and adult population and varies according to age. If it measurement is clinically relevant and should be considered to classify Vitamin D status is still unknown.Objective: To measure 25OHD3, 25-hydroxy-Vitamin D2 (25OHD2) and Epi25OHD3 and to compare them with PTH and calcemia.Method: Subjects: Children between 5 and 8 years of age born very...

Background: Nutritional rickets is a disorder of defective chondrocyte differentiation and mineralization of the growth plate and osteoid due to vitamin D deficiency with or without low calcium intake in growing children. Maternal Vitamin D deficiency and exclusive breastfeeding without supplementation are the most frequent causes of rickets in the infancy. Vitamin D deficiency is still a problem in Sri Lanka in spite of sun shine throughout the year. We present a case series ...

Progeria syndromes are rare in children and include several diseases which lead to premature ageing already in children. Therefore, the pediatrician may be confronted with diseases which are normally seen only in persons with advanced age. We report about two children with progeria, in whom diabetes type 2 become manifest early and with a fulminant course in one patient. The first boy was known with Cockayne syndrome, which belongs to the progeria syndromes. He suffered from l...

Background: Hypomagnesemia is a frequent condition in patients with diabetes mellitus (DM). It could influence metabolic control in patients with DM. Relevant studies concern mainly adults and there are few data from the pediatric population. The aim of the present study was to evaluate magnesium levels and examine their possible association with glycemic control in pediatric patients with diabetes mellitus.Methods: In all, 36 patients with DM (type 1, 3...