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...

hrp0097p1-568 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Impact of unilateral ovariectomy on ovarian function and pubertal development in girls with Turner syndrome

van der Coelen Sanne , Nadesapillai Sapthami , Peek Ronald , Braat Didi , Fleischer Kathrin , van der Velden Janielle

Background: A reduced reproductive lifespan is one of the most significant implications for girls with Turner syndrome (TS) and is due to an accelerated loss of ovarian insufficiency. Lately, there has been a surge in scientific research aimed at whether ovarian tissue cryopreservation (OTC) is a viable option for fertility preservation in girls with TS. This required a unilateral ovariectomy for girls with TS who may already have a poor ovarian reserve.<p...

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 ...

hrp0092p1-269 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

The Impact of Klinefelter Syndrome on Quality of Life – a Multicentre Study

Franik Sebastian , Fleischer Kathrin , Kortmann Barbara , Stikkelbroek Nike , D'Hauwers Kathleen , In't Hout Joanna , Bouvattier Claire , Slowikowska-Hilczer Jolanta , Grunenwald Solange , van de Grift Tim , Cartault Audrey , Richter-Unruh Annette , Reisch Nicole , Thyen Ute , Claahsen - van der Grinten Hedi

Background: Klinefelter syndrome (KS) is associated with an increased risk of lower socioeconomic status and a higher risk for morbidity and mortality, which may have a significant impact on quality of life (QOL). The objective of this study is to investigate QOL in a large European cohort of men with KS and associate QOL with socioeconomic status, prevalence of somatic disease and mental illness, testosterone supplementation and age of diagnosis.<p class=...