ESPE Abstracts

Introduction: X-linked ichthyosis is an inherited disorder of keratinization due to steroid sulfatase deficiency. It may be part of a contiguous gene syndrome characterized by the presence of several clinical features including hypogonadism, Leri-Weill syndrome, short stature, chondrodysplasia punctata, mental retardation, epilepsy, Dandy-Walker malformation and ocular albinism. It is due to microdeletions of Xp22.3. We report observations of two siblings with syndromic x-link...

Background: Non-endocrine pituitary tumors (NEPT) correspond to expansive processes, developing at the expense of non-endocrine pituitary lodge structures. Our objective is to evaluate their prevalence and their incidence rates in Oran, Algeria.Patients and Methods: This is a cross-sectional descriptive multicenter study in the town of Oran study. Data were collected prospectively from Avril 2014 to Mars 2015 and retrosp...

Background: The craniopharyngioma is a non-endocrine tumor, developed along the infundibulo-pituitary axis, from the third ventricle to sphenoid, histologically benign but locally invasive. It is a tumor with serious complications because of its location, its considerable potential for extension, its tendency to recur, and its adhesions to neighbouring structures. Our aim is to assess hormonal profile, neuro-ophthalmological and metabolic complications at the ...

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 ...

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...

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...

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...

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...

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...

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...