hrp0086p2-p944 | Thyroid P2 | ESPE2016

Age at Diagnosis and Mental Development in Children with Congenital Hypothyroidism in the Absence of Newborn Screening Programme

Ouarezki Yasmine , Ladjouze Asmahane , Kherra Sakina , Djermane Adel , Laraba Abdennour

Background: The outcome of congenital hypothyroidism (CH) has dramatically changed since the start of neonatal screening. However the benefit of this program is not felt in Algeria and other countries where the pathology is still causing irreparable brain damage.Objective and hypotheses: To evaluate age at diagnosis of CH and its impact on the mental development in the absence of new-born screening.Method: Case notes of all patient...

hrp0095p2-173 | Growth and Syndromes | ESPE2022

Case report of Leprechaunism syndrome in an Algerian child

Kherra Sakina , Drali Ouardia , Haddad Karima , Boutaba Mounia , Guichet Anges , Coutant Regis , Zeroual Zoulikha

Introduction: Leprechaunism syndrome is a very rare genetic autosomal recessive disorder (Prevalence 1 in a million births), and is caused by mutations in the insulin receptor gene.Case presentation: We report the case of a 5-month-old Algerian female, born to consanguineous parents. Birth was via caesarean section at 37 weeks gestation due to severe intrauterine growth restriction: birth weight 1800 g (< - 3.66SD), h...

hrp0095p2-222 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

A rare case of Langerhans cell histiocytosis of the central nervous system in a child

Kherra Sakina , Haddad Karima , Boutaba Mounia , Bellouti Sihem , Sifour Latifa , Zeroual Zoulikha

Case presentation: We report the case of Imad, a 2-year- old Algerian boy referred with a 2-month history of polyuria and polydipsia. Diabetes insipidus was diagnosed by confirming hypernatremia with hyperosmolar serum and inappropriately dilute urine. His polyuria and polydipsia improved dramatically using the oral vasopressin analog. The child had no clinical signs of underlying disease, serum tumor markers were not detected and a skeletal survey suggested n...

hrp0089p3-p253 | Growth &amp; Syndromes P3 | ESPE2018

Tall Stature: A Diagnosis is Sometimes Difficult

Kherra Sakina , Bekakcha Hadjira , Boutaba Mounia , Talbi Fatiha , Behidj Yasmina , Zeroual Zoulikha

Background: Tall stature is defined as height >02 S.D. above the population mean. The most common cause is normal familial tall stature, but some cases are pathological and require special attention.Observations: We report four clinical cases corresponding to four diagnostic categories. We describe the diagnostic approach and difficulties encountered through these cases.Case 1: A boy aged 25 months was referred f...

hrp0086fc7.3 | Gonads &amp; DSD | ESPE2016

Estrogen Insensitivity due to a Novel ESR1 Mutation in a Consanguineous Family from Algeria

Kherra Sakina , Ladjouze Asmahane , Bernard Valerie , Anane Tahar , Laraba Abdenour , Christin-Maitre Sophie

Background: Estrogen insensitivity syndrome is a form of functional estrogen deficiency which is caused by a defect in the estrogen receptor type α (ESR1). As a result of the receptor mutation, estrogens cannot be recognized and hence initiate their biological action on pubertal growth, skeletal maturation, and accrual of bone mass. A mutation in the gene encoding ESR1 has been described in only 2 cases (one man and one woman). We now describe the first family with ESR1 m...

hrp0084p2-438 | Gonads | ESPE2015

Gonadal Function in the Prader-Willi Syndrome from Infancy to Adulthood

Kherra Sakina , Kourime Mariam , El-Sedfy Heba , Paterson Wendy , Shaikh M Guftar , Donaldson Malcolm

Background: Prader-Willi syndrome (PWS), caused by loss of paternally imprinted genes in the 15q11-13 region, results in hypogonadism which is more severe in males.Objective: To review the gonadal status of patients seen in a dedicated PWS clinic from 1990–2013 inclusive so as to establish the clinical patterns and hence to optimise future management.Method: Retrospective case note review over a 23-year period.<p class="ab...

hrp0086p1-p559 | Perinatal Endocrinology P1 | ESPE2016

Recognition of the Fetal and Perinatal Features of the Prader-Willi Syndrome is Required to Avoid Delay in Diagnosis

Cizmecioglu Filiz Mine , Jones Jeremy Huw , Paterson Wendy Forsyth , Kherra Sakina , Kourime Mariam , Shaikh M Guftar , Donaldson Malcolm

Introduction: Prompt diagnosis in Prader-Willi syndrome (PWS) is important for counselling the family and thus pre-empt the hyperphagic phase of the condition.Objectives: To determine the key diagnostic features of PWS during the perinatal period and hence recommend strategies to ensure early diagnosis.Study design: Retrospective case note review with prospective questionnaire survey of birth details for the affected child and heal...

hrp0097p2-94 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Diagnostic and predictive value of brain magnetic resonance imaging in Algerian children with growth hormone deficiency

Kherra Sakina , Boutaghane Noureddine , Bellouti Sihem , Sifour Latifa , Sahli Hassiba , Djermane Adel , Yasmine Ouarezki , Ladjouze Asmahane , Talbi Fatiha , Bendakir Imane , Chikh Amina

Background: Growth hormone deficiency (GHD) in children is a rare condition. It may be idiopathic or may develop as a consequence of congenital or acquired organic pathology of the hypothalamic-pituitary axis. GHD can be partial or part of a combined pituitary deficiency. Brain magnetic resonance imaging (MRI) is very useful in establishing the etiology of GHD and predicting its severity.Study aims: To investigate the re...