hrp0097p1-176 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Mechanism of mutagenesis and phenotype implications of small indels in the Androgen Receptor gene in Androgen Insensitivity Syndrome

Loch Batista Rafael , Ramos Raquel , Caroline Afonso Ana , Petroli Reginaldo , Tereza Ferrari Maria , Domenice Sorahia , Nishi Mirian , Mendonca Berenice

Indels are highly abundant in human genomes and have contributed massively to genome evolution. However, the role of indels and their underlined mechanisms of mutagenesis in Mendelian disorders still needs to be appreciated. To explore the contribution of indels in a monogenic disorder, we analyzed all indels already described in the AR gene, including three novel indels found in our cohort. We analyzed the indel distribution through the AR coding region, compared wit...

hrp0086p1-p890 | Thyroid P1 | ESPE2016

The Molecular Causes of Congenital Hypothyroidism: The Scottish experience

Kourime Mariam , Jones Jeremy , Ansari Aisha , Bradley Therese , Mason Avril , Shaikh Guftar

Background: Inherited forms of congenital hypothyroidism (CH) account for approximately one quarter of all causes of CH. These include biosynthetic defects and developmental and morphological abnormalities.Objective: Describe the Scottish experience of genetic testing in CH.Method: Retrospective study over 37 years up to March 2016. Patients were selected on the basis of imaging findings or strong family history of CH.<p class=...

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...

hrp0086p2-p841 | Syndromes: Mechanisms and Management P2 | ESPE2016

Safety and Efficacy of Growth Hormone (GH) in Combination with the Gonadotrophin Releasing Hormone Agonist Leuprorelin in Pubertal Children with Idiopathic Short Stature

Benabbad Imane , Tauber Maite , Rosilio Myriam , Paris Emmanuel , Berggren Lovisa , Patel Hiren , Carel Jean-Claude

Background: Due to delays in diagnosis of Idiopathic Short Stature (ISS), puberty has often started when Growth Hormone (GH) is initiated.Objective and hypotheses: To compare GH+leuprorelin (GH+L) with GH alone in patients with ISS and at Tanner puberty stage 2 or 3. We hypothesised that co-administration of GH+L for 2–3 years would delay puberty, prolong GH efficacy and increase adult height.Method: A phase 3, randomised, ope...

hrp0084p3-832 | Fat | ESPE2015

The French Experience in Bariatric Surgery ‘Laparoscopic Adjustable Gastric Banding’ in Adolescence

Dabbas Myriam , Khen-Dunlop Naziha , De Filippo Jean Paul , Bougneres Pierre , Goulet Olivier , Revillon Yann

Background: Because the success rate of lifestyle interventions is modest in severely obese adolescents, surgical treatments are now proposed. Laparoscopic adjustable gastric banding (LAGB) represents an attractive treatment with minimal morbidity and reversible procedure.Method: All adolescents were included in prospective longitudinal assessment and entirely managed by a pediatric team. Surgery was proposed only after at least 1-year lifestyle interven...

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...

hrp0084p3-1180 | Thyroid | ESPE2015

Outcome of Thyrotoxicosis in Childhood and Adolescence in a Geographically Define Area; a 24-Year Experience

Kourime Mariam , McGowan Sheena , Al-Towati Mabrouka , Ahmed Faisal , Stewart Graham , Williamson Scott , Hunter Ian , Donaldson Malcolm

Background: Paediatric thyrotoxicosis is both rarer and more severe than in adulthood, rendering management difficult, and often unsatisfactory.Objective: To review outcome in a geographically defined area between 1989 and 2013; hence to develop an algorithm for improved clinical care.Method: Retrospective case note review plus questionnaire to family doctor requesting update. Graves’ disease (GD) was defined as positive TSH-R...

hrp0084lbp-1261 | Late Breaking Posters | ESPE2015

POLR3H Variant is Associated with Primary Ovarian Failure in Two Families

Franca Monica , Funari Mariana , Domenice Sorahia , Nishi Mirian , Costa Elaine , Gontijo Leticia , Latronico Ana Claudia , Jorge Alexander , Lerario Antonio , Mendonca Berenice

Background: Primary ovarian failure (POF) is a major cause of female infertility. POF is characterized by amenorrhea, hypo-estrogenism, and elevated gonadotrophin levels. In POF disorder, several genetic alterations have been described, however in most of the patients the etiology of this disorder remains unknown.Objective and hypotheses: To identify new genes implicated in the development of POF using whole-exome sequencing (WES)....

hrp0092p2-264 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Ethical and Familial Dilemmas of Genitoplasty Encountered in Congenital Adrenal Hyperplasia

Dirlewanger Mirjam , Birraux Jacques , Edan Anne , Klee Philippe , Phan-Hug Franziska , Schwitzgebel Valérie M.

Differences of sex development (DSD) occur in about 1 in 3000 newborns in Switzerland. The indication and timing of genitoplasty in children with DSDs is a complex issue. In 2012 the Swiss National Advisory Commission on Biomedical Ethics published its position against early irreversible interventions in order to "normalize" the aspect of the external genitalia.We report the case of a child with a 46,XX DSD due to a classical form of congenital a...

hrp0086fc9.1 | Pathophysiology of Disorders of Insulin Secretion | ESPE2016

Next Generation Sequencing for the Diagnosis of Monogenic Diabetes in Switzerland

Klee Philippe , Dirlewanger Mirjam , Blouin Jean-Louis , Castellsague-Perolini Montserrat , Santoni Federico , Schwitzgebel Valerie

Background: Monogenic diabetes (MD) remains undiagnosed in more than 90% of the cases. However, precise, quick and cost-effective diagnosis is important to choose an adequate treatment and to avoid long-term complications.Objective and hypotheses: To develop and validate a diagnostic tool to improve diagnosis rate of MD in Switzerland, as well as to open new research directions.Method: Targeted next-generation sequencing (NGS) of 3...