Volume 82 | ESPE2014 | Next issue

ESPE 2014

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

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Dublin, Ireland; 18-20 September 2014. Further information

Poster Category 3

Growth (4)

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-d3-863 | Growth (4) | ESPE2014

Costello Syndrome: What About GH Treatment?

Manolachie Adina , Rusu Cristina , Fadur Alina , Bodescu Ioana , Braha Elena , Mogos Voichita , Vulpoi Carmen

Background: Costello syndrome (CS) is a rare autosomal dominant genetic disease, first described in 1971, part of neuro-cardio-facio-cutaneous syndrome (with RAS pathway genes mutations of MAPKinaza-RASopathies), characterized by short stature, delayed mental development, joint hiperlaxity, papillomas, congenital heart defects and increased risk to develop benign or malignant solid tumors.Case: We present the case of a teenaged girl (15 years 7 months), ...

hrp0082p3-d3-864 | Growth (4) | ESPE2014

The Establishment of a New Paediatric Endocrinology Training Programme in South Africa

de Villiers Francois

Background: During the 1980s there were no officially accredited training programmes for subspecialty training in South Africa. Accordingly, doctors with accreditation from other countries, or with extensive experience in the subspecialty, were recognised as subspecialists, based on peer review.Objective and hypotheses: The objective of this poster was to document the development of a new Paediatric Endocrinology programme in a previously disadvantaged m...

hrp0082p3-d3-865 | Growth (4) | ESPE2014

Side Effect of Treatment with rGh

Merouane Belacel , Samia Baz O' Achir

Background: Stunting is a common reason for consultation in pediatrics, several etiologies are responsible, although endocrine causes is rare, it is important to make the diagnosis in order to provide early adequate treatment. however the treatment by rGH is usually well tolerated, side effects should be known, including the possibility of retinal edema revealing intracranial hypertension.Objective and hypotheses: Our purpose is to report a side effect o...

hrp0082p3-d3-866 | Growth (4) | ESPE2014

GH Treatment Adherence in Children in Latvia

Eglite Zane , Dzivite-Krisane Iveta , Lauga-Tunina Una , Kirilova Inara

Background: Children with different growth disorders need therapy with recombinant human GH. Although mostly therapy leads to good results there are clinical cases when the therapy is not working. One of the reasons is patient’s and patient’s family’s adherence. That’s why it is necessary to explore what are the adherence and its impact on therapy’s outcome. Growth disorders can make an influence to all humans’ life, that’s why if it is possi...

hrp0082p3-d3-867 | Growth (4) | ESPE2014

The Effect of GH and Pubertal Induction Therapy in Turner Syndrome

Darcan Sukran , Ozen Samim , Koprulu Ozge , Atik Tahir , Ozkinay Ferda , Goksen Damla

Background: The most prominent clinical feature in patients with Turner syndrome (TS) is short stature.Objective and hypotheses: To assess the effect of GH and pubertal induction therapy on height gain in patients with TS.Method: 58 TS patients with a mean age of 18.9±7.2 years were documented retrospectively. Clinical findings, karyotype, impact of baseline age, dosage, baseline bone age, duration of the GH and pubertal induc...

hrp0082p3-d3-868 | Growth (4) | ESPE2014

Hearing Loss in Turner Syndrome

Baz Ouidad , Semrouni Mourad , Sakher Samia

Background: Hearing problems and ear malfunctions are frequent in Turner syndrome (TS) and correlate with the karyotype. As a result of the frequent otitis media, conductive hearing loss is common in girls with TS. Sensorineural hearing loss is also common and may occur as early as 6 years of age.Objective and hypotheses: This study reviewed a cohort of children to clarify the incidence and pattern of conductive and sensorineural hearing loss in girls wi...

hrp0082p3-d3-869 | Growth (4) | ESPE2014

Genotype–Phenotype Correlation in Turner Syndrome

Djermane Adel , Ladjouze Asmahane , Ouarezki Yasmine , Ait-Abdelkader Belaid , Kedji Leila , Maoudj Abdeljalil , Berkouk Karima , Griene Lakhder , Laraba Abdennour

Background: Short stature and gonadal dysgenesis are the two characteristic clinical features of Turner syndrome (TS), but multiple systems may be affected.Aims: To evaluate TS prevalence in girls presenting with short stature; and to establish a correlation between karyotype and associated features.Subjects and methods: Retrospective study of all patients diagnosed with TS (December 2007–March 2013).Res...

hrp0082p3-d3-870 | Growth (4) | ESPE2014

Primary Amenorrhea with Normal Stature: Why Not Turner Syndrome?

Hristov Ioana , Hreniuc Ana , Gherasim Simona , Ungureanu Maria-Christina , Preda Cristina , Vulpoi Carmen , Mogos Voichita , Leustean Letitia

Background: Turner syndrome is the most common sex chromosome disorder in females and occurs in about 1/2500 newborn girls worldwide. On chromosomal analysis, the various karyotypes observed are: 45,X (50%); 45,X/46,XX (20%); 46,X, i(Xq) (15%); 46,X, r(X) or 46,X, del(X) (10%); and others (5%).Objective and hypotheses: We present the case of a 17-year-old girl referred to our service for primary amenorrhea. Clinical examination: height=163 cm (62nd perce...

hrp0082p3-d3-871 | Growth (4) | ESPE2014

The Causes of Short Stature in Turner Syndrome

Chen Ruimin , Zhang Ying , Yang Xiaohong , Lin Xiangquan , Yuan Xin

Background: Turner syndrome (TS) is due to complete or partial deletion of an X chromosome. The most common clinical features encountered in TS patients were short stature and primary amenorrhea.Objective and hypotheses: The purpose of this study was to investigate the causes of short stature in TS.Method: 86 patients with TS were diagnosed by karyotypes from 2004 to 2013, the karyotypes distribution were as follows: 64 patients wi...

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 ...

hrp0082p3-d3-873 | Growth (4) | ESPE2014

Phenotypic and Genotypic Characteristics of Patients with Turner Syndrome

Fedala Soumeya , Haddam Ali el Mahdi , Chentli Farida , Meskine Djamila , Akkache Lyna , Siyoucef Hafsa

Background: Turner syndrome (TS) is the most common chromosomal abnormality in females (prevalence 1/2500 births). It is related to the absence or abnormality of one of the two X chromosomes. It is characterized by a short stature, gonadal failure and a many diseases that reduce life expectancy of patients.Objective and hypotheses: Report clinical, hormonal, cytogenetics, and evolutionary TS characteristics then correlate the karyotype and clinical expre...