hrp0092rfc12.1 | Growth and Syndromes (to include Turner syndrome) | ESPE2019

Karyotyping of oocytes, granulosa cells and stromal cells in the ovarian tissue from patients with Turner syndrome: a pilot study

Peek Ron , Schleedoorn Myra , Beerendonk Catharina , van der Velden Janielle , Braat Didi , Smeets Dominique , Fleischer Kathrin

Summary Answer: Most primordial/primary oocytes were found to have a 46,XX karyotype. Chromosome patterns of the ovarian cells were different from that observed in other tissues.Background: TS is a chromosomal condition associated with partial or complete absence of one of the two X-chromosomes. Females with TS have a limited reproductive lifespan due to an accelerated loss of germ cells. It has been hypothesized that vi...

hrp0084p2-366 | Fat | ESPE2015

Homozygous Mutation in FBN1 Gene In-Patient with Prader–Willi Syndrome: Variant Marfan Syndrome?

van den Boom-Rijk Yvonne , Kempers Marlies , van der Sanden Ria Nijhuis , van Alfen-van der Velden Janielle

Background: Prader–Willi syndrome (PWS) is caused by absence of expression of imprinted genes on the paternal chromosome 15 (15q11.2–q13) due to a paternal deletion, maternal uniparental disomy 15 and rarely an imprinting defect. The clinical signs of PWS are hypotonia, muscle weakness, excessive eating, morbid obesity, delayed global development, hypogonadism, and short stature. Marfan syndrome is caused by mutations in the FBN1 gene, located on chromosome ...

hrp0092p1-377 | Growth and Syndromes (to include Turner Syndrome) (2) | ESPE2019

International Consensus: Ovarian Tissue Cryopreservation in Young Turner Syndrome Patients. Outcomes of an Ethical Delphi Study Including 55 Experts from 16 Different Countries.

Schleedoorn Myra , Mulder Bjarne , Braat Didi , Beerendonk Catharina , Peek Ron , Nelen Willianne , van Leeuwen Evert , van der Velden Janielle , Fleischer Kathrin

Summary Answer: The majority of the expert panel states that ovarian tissue cryopreservation (OTC)should be offered to young females with Turner syndrome (TS)Background: OTC is a valid option to preserve the fertility of young females at risk of iatrogenic premature ovarian insufficiency (POI). Offering OTC to females with a genetic cause of POI seems a logical next step. One of the most common genetic disorders related ...

hrp0084p1-140 | Turner & Puberty | ESPE2015

Impaired Motor Function in Turner Syndrome: What is the Relationship to Performal Intelligence Scores?

Taskin Betul , Verhaak Chris , Essink Marlou , Kempers Marlies , Vinck Anja , Sanden Ria Nijhuis-van der , Velden Janielle van Alfen-van der

Background: Although motor performance is often impaired in patients with Turner syndrome, the exact prevalence of motor problems is unknown. Detailed studies on specific motor profiles are lacking and the exact relationship between performal IQ and motor function is unknown.Aims and objectives: 1. To describe motor performance in our population of children and adolescents with Turner syndrome including the differentiation in specific motor skill domains...

hrp0084p2-196 | Adrenals | ESPE2015

The Role of the Nurse Practitioner in Optimising Care for Children with Congenital Adrenal Hyperplasia

van de Crommert Viviane , van Alfen-van der Velden Janielle , van der Linde Annelieke , Noordam Kees , Claahsen-van der Grinten Hedi

Background: Congenital Adrenal Hyperplasia (CAH) is a rare group of congenital adrenal diseases with an estimated prevalence of about ten newly diagnosed patients in the Netherlands per year. Morbidity and mortality improved significantly in the last 20 years mainly due to improvement of multidisciplinary care and education of patients and parents. In the last years the role of the nurse practitioner (NP) as case manager in the care and follow up of patients with chronic disea...