hrp0082fc4.5 | Growth | ESPE2014

Fetal and Postnatal Growth in Turner Syndrome and their Associations with the Dosage Effects of the X-Linked Gene: a Cross-Sectional Data Base Analysis of the French National Rare Disease Network

Zenaty Delphine , Fiot Elodie , Santos Sophie Dos , Boizeau Priscilla , Haignere Jeremie , Leger Juliane , and the French Turner Syndrome Study Group

Background: Shox gene, located on the short arm (p) of the X chromosome, is expressed in the growth plate cartilage in pre and post natal life. Whereas the dose dependent association between the number of active copies of the SHOX gene and height is well established, studies addressing a more subtle variability between the quality of fetal growth, the severity of post natal height deficit and karyotype subgroups in Turner syndrome (TS) are still limited....

hrp0084p1-141 | Turner & Puberty | ESPE2015

Adult Height after Growth Hormone Treatment and its Association with X Chromosome Dosage in Turner Syndrome: a Cross-Sectional Database Analysis of the French National Rare Disease Network

Fiot Elodie , Zenaty Delphine , Boizeau Priscilla , Haignere Jeremie , Santos Sophie Dos , Leger Juliane , FrenchTurner Syndrome Study Group

Background: In Turner syndrome (TS), Shox haploinsufficiency accounts largely, but not entirely, for the short stature of patients, which has been estimated at a mean loss of 20 cm with respect to target height. GH treatment has been shown to improve adult height (AH), although individual outcomes vary markedly. Little is known about the relationship between the dosage effects of the X-linked gene and responsiveness to GH.Objective: To determine whether ...

hrp0089p1-p248 | Thyroid P1 | ESPE2018

Early Determinants of Thyroid Function Outcome in Children with Congenital Hypothyroidism and a Normally Located Thyroid Gland: A Regional Cohort Study

Saba Carole , Guilmin-Crepon Sophie , Zenaty Delphine , Martinerie Laetitia , Paulsen Anne , Simon Dominique , Santos Sophie Dos , Haignere Jeremy , Mohamed Damir , Jean-Claude Carel , Juliane Leger

Background: An increase in the incidence of congenital hypothyroidism (CH) with a normally located gland has been reported worldwide. Affected individuals display transient or permanent CH during follow-up in childhood. We aimed to determine the prevalence of transient CH and to assess the possibility of distinguishing between transient and permanent CH in early infancy.Methods: This observational cohort study included all patients identified by systemat...

hrp0084fc5.4 | Endocrine Oncology/Turner | ESPE2015

X Chromosome Gene Dosage and the Risk of Developing Congenital and Acquired Traits in Turner Syndrome: a Cross-Sectional Database Analysis of the French National Rare Disease Network

Zenaty Delphine , Fiot Elodie , Boizeau Priscilla , Haignere Jeremie , Santos Sophie Dos , Carel Jean Claude , Leger Juliane , French Turner Syndrome Study Group

Background: The broad spectrum of associated diseases underlying the diverse phenotypes of patients with Turner syndrome (TS) has been extensively described. However, the underlying pathophysiological mechanisms remain unknown. Few studies have analyzed congenital and acquired diseases as a function of karyotype, and conflicting results have been obtained, calling into question the role of haploinsufficiency for genes located on the X chromosome.Objectiv...