hrp0082wg5.2 | Paediatric and adolescent gynaecology | ESPE2014

Amenorrhea and Hypothalamic–Pituitary Dysfunction

Pitteloud N

Female reproductive disorders due to a hypothalamic–pituitary defect include hypothalamic amenorrhea (HA), polycystic ovarian syndrome (PCOS) and hyperprolactinemia. This talk will review the clinical presentation of HA, PCOS and hyperprolactinemia in adolescents and young adults and will provide an overview of recent clinical advances in the field....

hrp0082p2-d3-492 | Endocrine Oncology | ESPE2014

Autoimmune Polyglandular Syndrome in a Patient with Tuberous Sclerosis

Stoppa-Vaucher Sophie , Elowe-Gruau Eglantine , Phan-Hug Franziska , Pitteloud Nelly , Hauschild Michael

Background: Tuberous sclerosis (TS) is an autosomal dominant neurocutaneous disorder involving many organ systems. The frequency of TS is around one per 5000 to 10 000 live births and is caused by mutation in the TSC1 or TSC2 genes. Autoimmune polyglandular syndrome type 2 (APS2) is an endocrinopathy characterized by two or more autoimmune diseases. Several susceptibility genes are known. The prevalence of APS2 is around 1:20 000.Object...

hrp0094p2-363 | Pituitary, neuroendocrinology and puberty | ESPE2021

Pedigree analysis is essential for clarifying oligogenic transmission in a family with congenital hypogonadotropic hypogonadism (CHH)

Oberhauser Sarah , Papadakis G Georgios , Pitteloud Nelly , L’Allemand Dagmar ,

Background: Congenital hypogonadotropic hypogonadism (CHH) is a rare disease with a complex clinical picture and genetic background. In up to 50% genetic mutations are found. The goal is to be able to provide a comprehensive prognosis and genetic counseling for this family with CHH.Case presentation: At the age of 16 years a boy with familial constitutional delay (adrenarche only with 15 years, no growth spurt, bone age 14 years) present...

hrp0086p2-p658 | Growth P2 | ESPE2016

Early Diagnosis and Treatment of a Newborn with POU1F1 Mutation

Bouthors Therese , Antoniou Marie-Christina , Dwyer Andrew , Stoppa-Vaucher Sophie , Elowe-Gruau Eglantine , Phan-Hug Franziska , Pitteloud Nelly , Hauschild Michael

Background: POU1F1 encodes a pituitary-specific homeodomain transcription factor that is crucial for development and differentiation of anterior pituitary cell types. Mutations in this gene result in GH, TSH and prolactin (PRL) deficiencies.Objective and hypotheses: To describe a male newborn of a mother with known dominant p.R271W mutation in the POU1F1 gene.Methods: Case report with clinical follow up, endocrine investigations, n...

hrp0082p1-d3-86 | Diabetes (2) | ESPE2014

Implementation of Effective Transition from Paediatric to Adult Diabetes Care with an Outpatient Transition Nurse

Elowe-Gruau Eglantine , Aquarone Marie-Paule , Schluter Virginie , Stoppa-Vaucher Sophie , Phan-Hug Franziska , Dwyer Andrew , Pitteloud Nelly , Hauschild Michael

Background: Diabetes mellitus (DM) is a chronic metabolic disorder requiring daily care to prevent both acute and chronic complications. Intensive support to facilitate coping and self-care skills is advocated. Healthcare providers are challenged to manage the transition of adolescents from paediatric to adult diabetes services.Objective and hypotheses: While centres providing structured integrated paediatric and adult care seem optimal, many patients op...

hrp0084p2-315 | DSD | ESPE2015

Chimerism in a Teenager with Ovotesticular Disorder of Sexual Development

Buzduga Mihaela , Meyrat Blaise , Typaldou Sofia Anna , Estremadoyro Vanina , Maestre Leonor Alamo , Dwyer Andrew , Pitteloud Nelly , Phan-Hug Franziska

Background: Chimerism is the phenomenon of two or more genetically distinct cell lines (originating from different zygotes) in the same individual. In situations when the sex of the fertilised eggs is disparate, it can lead to intersex phenotypes.Objective and hypotheses: We report a case of ovotesticular disorder of sexual development with chimerism resulting from a twin pregnancy (not involving assisted reproductive technologies).<p class="abstext"...

hrp0084p2-534 | Puberty | ESPE2015

Evaluation of Body Proportions in Children with Precocious or Delayed Puberty

Wagner Anaelle , Phan-Hug Franziska , Stoppa-Vaucher Sophie , Elowe-Gruau Eglantine , Dwyer Andrew , Pichard Silvia , Pitteloud Nelly , Hauschild Michael

Background: Over the past 20 years there is growing evidence that onset of puberty and changes in body proportions occur at an earlier age, especially in girls. Several studies have suggested this trend is linked to increasing rates of overweight and obese children. However, data on delayed pubertal trends are scant.Objective and hypotheses: To characterize body proportions of children evaluated for pubertal disorders.Method: Retro...

hrp0095p1-347 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Congenital hypogonadotropic hypogonadism and Cornelia de Lange Syndrome share clinical phenotype and genetic background

Kolesinska Zofia , Xu Cheng , Messina Andrea , Acierno James , Niederlander Nicolas , Santoni Federico , Papadakis Georgios , Pignatelli Duarte , Avbelj Stefanija Magdalena , Smith Kimberly Keefe , Balasubramanian Ravikumar , Crowley William , Pitteloud Nelly

Background: Congenital hypogonadotropic hypogonadism (CHH) is caused by impaired function of GnRH neurons, which clinically manifests by incomplete or absent puberty and infertility. The phenotype may be broader with other developmental anomalies such as anosmia, which is known as Kallmann syndrome. To date, there are more than 40 genes in which mutations underlie CHH. Cornelia de Lange Syndrome (CdLS) is characterized by facial dysmorphia, psychomotor delay, ...

hrp0089p2-p361 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Towards an Integrated Approach to Diagnosis of 46,XY Disorder of Sex Development

Kolesinska Zofia , Acierno James Jr , Faisal Ahmed S. , Kapczuk Karina , Skorczyk-Werner Anna , Mikos Hanna , Rojek Aleksandra , Krawczynski Maciej , Pitteloud Nelly , Niedziela Marek

Background and objective: Given phenotype variability as well as limited utility of conventional endocrine investigations in reaching the diagnosis in a 46,XY patient suspected of a disorder of sex development (DSD), there is an increasingly stronger argument for considering targeted genetic sequencing at an earlier stage of the evaluation process. This study focused on identifying the relationship between clinical examination, endocrine and radiological assessment, as well as...

hrp0086p2-p763 | Pituitary and Neuroendocrinology P2 | ESPE2016

A Novel CHD7 Mutation in an Adolescent Presenting with Pubertal and Growth Delay

Antoniou Maria-Christina , Bouthors Therese , Xu Cheng , Phan-Hug Franziska , Elowe-Gruau Eglantine , Stoppa-Vaucher Sophie , Cassatella Daniele , Dwyer Andrew , Pitteloud Nelly , Hauschild Michael

Background: Mutations in the gene encoding the Chromodomain Helicase DNA-binding protein 7 (CHD7) are found in 60% of patients with CHARGE Syndrome (Coloboma, Heart Defects, Choanal Atresia, Retarded growth and development, Genital hypoplasia, Ear abnormalities and/or hearing problems) and in 6% of patients with Kallmann syndrome.Objectives and hypotheses: To describe a novel CHD7 mutation and its clinical presentation.<p class="abs...