hrp0082p3-d3-842 | Growth (2) | ESPE2014

Pubertal Development of Isolated GH Deficient Patients

Fedala Soumeya , Haddam Mahdi el Mahdi , Chentli Farida

Background: Hormone deficiency no or late treated causes delayed puberty and reduced final height.Objective and hypotheses: Assess the progress of puberty in isolated GH deficient (GHD) patients.Method: 34 patients with GHD in puberty were followed in endocrinology. The average age at diagnosis of GH deficiency was 8±2.4 (7–19) in girls and 9±1.2 (8–18) in boys. The majority of patients received an irregular GH ...

hrp0082p3-d2-643 | Adrenals & HP Axis (1) | ESPE2014

The Ganglioneuromas: About Eight Cases

Haddam Ali el Mahdi , Fedala Soumeya , Meskine Djamila , Chentli Farida , Laloui Amina , Ali Leila Ahmed

Background: The ganglioneuroma (GN) is a benign tumor of the sympathetic nervous system following the sympathogonies that affects children and young adults. This is a rare tumor (7/1 000 000) which can be located along the sympathetic chain from the neck to the pelvis. In 20% of cases, the GN is localized in the adrenal.Objective and hypotheses: Report observations of eight patients with GN.Observations: Eight patients (two boys an...

hrp0082p3-d1-669 | Bone | ESPE2014

Achondroplasia and Neurological Disorders

Saraoui Fatima , Fedala Soumeya , Mahdi Haddam Ali el , Chentli Farida , Meskine Djamila , Ahmed Ali Leila

Background: Achondroplasia is the most common cause of genetic dwarfism with a prevalence of 1/10 000 to 30 000 birth. It is a pathology of dominant inheritance linked to the mutation of the receptor gene growth factor on chromosome 4p16 fibroblastes FGFR3 responsable rhizomelic dwarfism and multiple complications likely to compromise the functional and vital prognosis of patients.Objective and hypotheses: Find the frequency of neurological complications...

hrp0082p3-d3-808 | Gonads and Gynaecology | ESPE2014

Phenotypic and Genotypic Characteristics of Patients with Turner Syndrome

Fedala Soumeya , Haddam Mahdi , Chentli Farida , Meskine Djamila , Akkache Lyna , Youcef Hafsa Si

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 ST characteristics then correlate the karyotype and clinical expres...

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-d3-873 | 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...

hrp0082p3-d2-972 | Sex Development (1) | ESPE2014

Disorders of Sexual Differentiation Observed in Endocrinology

Haddam Ali el Mahdi , Fedala Soumeya , Meskine Djamila , Chentli Farida , Ali Leylaahmed , Fedala Naziha

Background: Disorders of sexual differentiation (DSD) at birth is a serious defect often seen in endocrinology. Diagnosis must be early to ask an etiologic diagnosis, choose the sex of rearing and effectively treat the disease.Objective and hypotheses: Search etiologies of sexual ambiguities and clarify the phenotypic characteristics.Method: This is a retrospective study of 180 sexual ambiguities hospitalized. All patients underwen...

hrp0084p2-194 | Adrenals | ESPE2015

Cushing’s Syndrome in Children and Adolescents: About a Paediatric Series

Houatia Aicha , Fedala Soumeya Nora , Haddam Ali El Mahdi , Meskine Djamila , Chentli Farida

Background: Cushing’s syndrome in children and adolescents is rare. Its clinical and biological symptoms are severe with a significant impact on growth and puberty and poor prognosis.Objective and hypotheses: Report clinical, etiological and evolutionary characteristics of Cushing’s syndrome in children and adolescents.Method: This is a retrospective study of 45 children and adolescents with Cushing’s syndrome hospit...

hrp0084p3-638 | Autoimmune | ESPE2015

The Autoimmune Polyendocrinopathies in Children and Adolescents

Fedala Soumeya Nora , Haddam Ali El Mahdi , Ali Leyla Ahmed , Meskine Djamila , Chentli Farida

Background: PEA is a rare disease characterised by the coexistence of two endocrine autoimmune deficiencies, sometimes with a non-endocrine autoimmune disease associated concomittente of occurrence or metachronous way. Depending on the age of onset of the disease and the characteristics observed, we can distinguish several subgroups.Objective and hypotheses: Search frequency of PEA in children and adolescents and study their phenotype.<p class="abste...

hrp0084p3-683 | Bone | ESPE2015

Hypocalcaemia by Parathyroid Dysfunction in Children and Adolescents

El Mahdi Haddam Ali , Fedala Soumeya Nora , Chentli Farida , Meskine Djamila

Background: Dysfunction of the parathyroid gland is a rare cause of hypocalcaemia. It may be caused by a deficiency or resistance to PTH. Generally symptomatic It can be hereditary, congenital or acquired.Objective and hypotheses: Analysis of clinical, paraclinical, etiological and progressive children’s and adolescents hypocalcaemia by parathyroid dysfunction.Method: This is a retrospective study of hypocalcaemia by parathyro...