hrp0084p3-1058 | Hypo | ESPE2015

Cystic Encephalomalacia and Infantile Spasm as a Complication of Transient and Mild Hyperinsulinemic Hypoglycemia

Anik Ahmet , Anik Ayse , Unuvar Tolga , Tosun Ayse Fahriye , Dursun Siar , Akcan Abdullah Baris , Durum Yasemin , Turkmen Munevver Kaynak

Background: Although it is known that hypoglycaemia could cause severe negative effects on brain development and also infantile spasm, it has not been reported that transient hyperinsulinaemic hypoglycaemia, which spontaneously improves over a short time, may cause infantile spasms. Infantile spasm is a disorder of early childhood typically seen in first year of life characterized by the occurrence of sudden, brief, generally bilateral and symetric motor spasms of muscles of t...

hrp0092p3-149 | GH and IGFs | ESPE2019

Local Lipoatrophy following Recombinant Human Growth Hormone Administration in Prader Willi Syndrome

Akcan Nese , Bundak Ruveyde

Background: Recombinant human growth hormone (rhGH) is usually administered via subcutaneous injections. Besides well-known adverse events such as peripheral edema, benign intracranial hypertension, and slipped capital femoral epiphysis, a less known and rare side effect is local lipoatrophy, a phenomenon with an incompletely understood pathophysiology. Here, we report a case of Prader Willi Syndrome (PWS) who presented with local lipoatrophy following hGH.</p...

hrp0092p1-116 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

How to Approach Systemic Hypersensitivity reactions to Gonadotropin Releasing Hormone Analogues during treatment of Central Precocious Puberty

Kirkgoz Tarik , Karakoc Elif Aydiner , kiykim ayca , Bugrul Fuat , helvacioglu didem , eltan sevgi bilgic , kasap nurhan , ozen ahmet , baris safa , guran Tulay , bereket abdullah , turan serap

Background: Hypersensitivity reactions to gonadotropin releasing hormone analogues (GnRHa) is a rare but serious side effect . Besides, local reactions, urticaria, anaphylaxis, serum disease, Henoch Schonlein Purpura (HSP) have been reported during GnRHa treatment.. Clinicians should be aware of the potential association of GnRHa with systemic hypersensitivity reactions.Case reports: Here, we report nine girls with syste...

hrp0086p2-p979 | Thyroid P2 | ESPE2016

Conversion of Hypothyroidism to Hyperthyroidism in A Child with Down’s Syndrome

Alshahrany Abdullah

Background: Patients with Down’s syndrome have an increased prevalence of autoimmune disorders affecting both endocrine and non endocrine organs. The commonest autoimmune disease is related to the thyroid gland.Objective and hypotheses: To describe a child with down’s syndrome who has been treated of hypothyroidism But converted to hyperthyroidism few years later.Method: A 5-year old boy with Down’s syndrome presente...

hrp0082wg8.2 | GPED | ESPE2014

Management of Type 1 Diabetes Mellitus in Sudanese Children: Can We Implement International Guidelines?

Abdullah Mohamed

Like many other parts of the world the incidence of type 1 diabetes is increasing in Sudan leading to the double load of communicable and noncommunicable diseases. Many international guidelines for management of these cases have been published to help managing these children. In developing countries proper implementation of these guidelines is faced with difficulties due to lack of trained personnel, health care structure, accessibility to medical services, lack of facilities ...

hrp0089p2-p085 | Diabetes &amp; Insulin P2 | ESPE2018

The Efficacy of Tri-ponderal Mass Index and Body Mass Index in Estimating Insulin Resistance, Hyperlipidemia and Impaired Liver Enzymes During Childhood and Adolescents

Akcan Nese , Obyed Moaaz , Salem Jana , Bundak Ruveyde

Body mass index (BMI) is used to diagnose obesity in children and adolescents. Recently, the tri-ponderal mass index (TMI) has been reported to be nearly stable throughout adolescence and estimate body fat levels more accurately than BMI especially in adolescents. Aim: To compare the efficacy of TMI and BMI in forecasting of insulin resistance, hyperlipidemia and impaired liver enzymes.Method: One hundred and forty-two overweight or obes...

hrp0086p2-p789 | Pituitary and Neuroendocrinology P2 | ESPE2016

A Patient with Multiple Endocrine Neoplasia Type 1 Presented with Precocious Puberty

Akcan Nese , Mousa Umut , Sav Hasan , Bundak Ruveyde

Background: Multiple Endocrine Neoplasia Type 1 (MEN1) is an autosomally transmitted hyperplastic or neoplastic disorders of some endocrine and non-endocrine organs. Pituiatry tumors develop in 30–70% of patients with MEN1. Mean age at onset of MEN1 associated pituitary tumors is the 4th decade and its occurence before and during puberty is very rare. Although there are two case reports about MEN1 and delay puberty, early and rapidly progressive puberty with MEN1 has no r...

hrp0092p2-56 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

a case report of a girl with short stature has laron syndrome and spondyloepimetaphyseal dysplasia

Alshahrany abdullah , Alshahrany nouf

20 months old girl has frequent hypoglycemias, protruding forehead(frontal bossing), sunken bridge of the nose (saddle nose), and a blue tint to the whites of the eyes (blue sclerae). short limbs compared to the size of her torso, as well as small hands and feet, fragile thin hair,short limbs, Genu varum, Brachydactyly,malar falttening, motor delay, delayed teeth eruption, when plotted to growth chart height found far below the third centile for age,sex,population, Hre laborat...

hrp0089p2-p086 | Diabetes &amp; Insulin P2 | ESPE2018

Local Experience of Diabetes and Deafness

Ibrhim Reham , Abdullah Mohamed

Aim: There is a well described association between diabetes and deafness in many syndromes Collect baseline data about syndromes of diabetes and deafness in Sudan and the underline etiology.Methods: All records of patients with diabetes registered from (Jan.2006 to Dece.2015) were reviewed. Those confirmed to have deafness where further reviewed to find the etiology and management.Result: Ten cases of Wolfram syndrome were identifi...

hrp0092p1-162 | Adrenals and HPA Axis (1) | ESPE2019

Evaluation of Molecular Characteristics and Steroid Metabolomics in a Large Cohort of Children with 3β-Hydroxysteroid Dehydrogenase 2 Deficiency

Guran Tulay , Kara Cengiz , Yildiz Melek , Bitkin Eda C. , Haklar Goncagul , Lin Jen-Chieh , Gilligan Lorna C. , Barnard Lise , Keskin Mehmet , Anik Ahmet , Catli Gonul , Guven Ayla , Kirel Birgul , Tutunculer Filiz , Onal Hasan , Turan Serap , Akcay Teoman , Atay Zeynep , Baranowski Elizabeth S. , Yilmaz Gulay C. , Mamadova Jamala , Akbarzade Azad , Sirikci Onder , Aghayev AghaRza , Alkan Afra , Shackleton Cedric H.L. , Storbeck Karl H. , Baris Tugba , Arlt Wiebke , Chung Bon-Chu , Bereket Abdullah

Context: Deficiency of 3β-hydroxysteroid dehydrogenase 2 (3βHSD2) causes a very rare form of congenital adrenal hyperplasia (CAH) known as 3βHSD2 deficiency, which is a consequence of biallelic HSD3B2 gene defects. The estimated prevalence is less than 1/1,000,000 live births. Knowledge of comprehensive steroid metabolome patterns in 3βHSD2 deficiency is scarce.Objective: We aimed...