hrp0082p3-d3-862 | Growth (4) | ESPE2014

Muccopolysacharidose and Hypopituitarism: a Case Report

Kabour Saida , Fedala Soumeya , Chentli Farida , Yaker Fetta Amel , Ali Leila Ahmed

Background: Mucopolysaccharidosis 6 (MPS6) (or Maroteaux–Lamy syndrome) is a rare genetic disease characterized by progressive systemic disease caused by a deficiency of N-acetylgalactosamine 4-sulfatase which causes an accumulation of dermatan sulfate (DS). It is due to mutations in the BRSA gene, located on chromosome 5. In severe cases, the accumulation of DS in the body cells occurs mainly in bones, joints, eyes, heart and brain. Its association with anterior...

hrp0082p3-d3-800 | Gonads and Gynaecology | ESPE2014

Ovarian Tumors Observed in Endocrinology

Laloui Amina , Fedala Soumeya , Haddam Ali El Mahdi , Chentli Farida , Meskine Djamila , Ali Leyla Ahmed , Yaker Fetta Amel

Background: Ovarian tumors are rare in the pediatric age and are represented primarily by functional cysts and benign tumors, the most common is the mature teratoma.Objective and hypotheses: Assess clinical, radiological, etiological and scalable characteristics of ovarian tumors in the pediatric age.Method: Retrospective study of seven cases of ovarian tumors collected over a period of 20 years. All children received complete clin...

hrp0082p3-d3-943 | Puberty and Neuroendocrinology (1) | ESPE2014

Triptorelin Test in the Diagnosis of Precocious Puberty

Kabour Saida , Fedala Soumeya , Yaker Fetta Amel , Haddam Ali el Mahdi , Rabhi Lila , Chentli Farida , Meskine Djamila

Background: Central precocious puberty (CPP) in girls is characterized by an activation of the hypothalamic–pituitary–ovarian (HPO) axis before 8 years of age. Given the gradual awakening of the GnRH pulse generator, a spectrum of presentations has been found among girls with premature sexual development. CPP are not easily distinguished from idiopathic precocious thelarche (PT) or other intermediate positions along this spectrum. The GnRH test is the gold standard t...

hrp0092p3-78 | Diabetes and Insulin | ESPE2019

Prevalence of Fatty Liver in Children with Type 1 Diabetes Mellitus Attending Diabetes Clinic of Alexandria University Children's Hospital

Mowafy Ehsan , Mahfouz Amel , El Neily Dalia , Ramzy Heba

Background: The non-alcoholic fatty liver disease (NAFLD) is the most common liver disease worldwide. It is not uncommon in children with type 1 Diabetes Mellitus. It is often asymptomatic and discovered accidentally.Aim: The aim of this work was to screen the presence of fatty liver among children with type 1 DM attending the diabetes Clinic of Alexandria University Children's Hospital and its relation to the state ...

hrp0082p3-d3-915 | Pituitary (1) | ESPE2014

Thickened Pituitary Stalk with Central Diabetes Insipidus: What Diagnosis?

Merazka Amel , Samia Achir , Ouidad Baz , Dalila Foudil , Mourad Semrouni

Background: Central diabetes insipidus (DIC) is usually the final result of lesions affecting the hypothalamic–neurohypophyseal system, for the children, germinoma is the main reason. The MRI aspect is often limited to thickness pituitary stalk with loss of hyperintensity of the neurohypophysis.Objective and hypotheses: Thickening of pituitary stalk is suggestive of germinoma, the clinical picture is dominated by a DIC (90%), associated to hypopitui...

hrp0084p3-1129 | Pituitary | ESPE2015

Thickened Pituitary Stalk with Central Diabetes Insipidus: What Diagnosis?

Merazka Amel , Achir S , Baz O , Foudil D , Mimouni S

Background: Central diabetes insipidus (DIC) is usually the final result of lesions affecting the hypothalamic–neurohypophysal system, for the children, Germinoma is the main reason. The MRI aspect is often limited to thickness pituitary stalk with loss of hyperintensity of the neurohypophysis.Objective and hypotheses: Thickening of pituitary stalk is suggestive of germinoma, the clinical picture is dominated by a DIC (90%), associated to hypopituit...

hrp0082p3-d3-872 | Growth (4) | ESPE2014

Descriptive Analyses of Turner Syndrome

Bessahraoui Mimouna , Naceur Malika , Niar Sakina , Zennaki Amel , Arbi Farouk , Ousaleh Meriem , Bouziane-Nedjadi Karim

Background: Turner syndrome (TS) is a genetic syndrome caused by complete or partial absence of an X chromosome. It is the most common diagnosed sex chromosome abnormality in women, affecting 1/2000–2500 female live births.Objective and hypotheses: To determine to establish the clinical, hormonal, cytogenetic, and evolutive pattern of children with TS and to establish for correlations between genotype and phenotype.Method: We ...

hrp0092p2-77 | Diabetes and Insulin | ESPE2019

Education in type 1 Diabetes Mellitus (T1D): what do Educators Really Know? A Tunisian Multicenter Study among Young Doctors, Nurses and Nutritionnists

ESSADDAM Leïla , KALLALI Wafa , MELLITI Safa , KHALSI Fatma , FDHILA Faten , BEN CHEHIDA Amel , KHLAIFIA Zied , BOUSSETTA Khedija , KHEMIRI Monia , TEBIB Neji , MAHERZI Ahmed , FITOURI Zohra , BEN BECHER Saayda

Background: Type1 diabetes mellitus is increasing worldwide in childhood. Education is an essential part of the package care at diagnosis. It adresses children with newly diagnosed type 1 diabetes and their families and is made by young doctors and paramedical staff (nurses and nutritionnists).Objective: to assess the knowledge of the medical and paramedical staff concerning the global management of type 1 diabetes in ch...

hrp0082p1-d3-96 | Sex Development | ESPE2014

Isolated Hypospadias and Exposure to Endocrine Disrupting Chemicals During Pregnancy: a Multi-Institutional Controlled Study in a High Prevalence Area

Kalfa Nicolas , Philibert Pascal , Broussous Sylvie , Chouikh Taieb , Masmoudi Mohamed , Audran Francoise , Paris Francoise , Servant Nadege , Sultan Charles , Orsini Mattea , Zahhaf Amel , Daures Jean Pierre , Lehors Helene , Guys Jean Michel , Reynaud Rachel , Alessandrini Pierre , Bastiani Florence , Kurzenne Jean Yves , Wagner Kathy , Lacombe Gerard Morisson

Background: Numerous studies focused on the association between hypospadias and Endocrine Disrupting Chemicals (EDC) exposures. The wide variability of phenotypes included in these studies, the absence of comparison groups representative of the populations and the absence of concomitant genetic testing to rule out another cause make the results questionable.Objective and hypotheses: We performed a prospective phenotype-specific analysis of patients with ...