Endocrine Abstracts

New international clinical guidelines have just been published, based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016. These guidelines were initiated and developed by ESE in Europe, and by PES in USA, with important contributions from ESHRE, Endocrine Society, ESC, AHA, Society for Endocrinology, and ESPE.Morbidity and...

New international clinical guidelines have just been published, based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016. These guidelines were initiated and developed by ESE in Europe, and by PES in USA, with important contributions from ESHRE, Endocrine Society, ESC, AHA, Society for Endocrinology, and ESPE.Morbidity and...

Treatment with growth hormone (GH) during childhood and adolescence allows a considerable gain in adult height. SHOX deficiency explains some of the phenotypic characteristics in TS, principally short stature. Puberty has to be induced in most cases, and female sex hormone replacement therapy should continue during adult years. These issues are normally dealt with by the paediatrician, but once a TS female enters adulthood it is less clear who should be the primary care giver....

Turner syndrome (TS) affects 25–50 per 100 000 females and can involve multiple organs through all stages of life, necessitating a multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted since their publication. These advances cover all specialty fields involved in the care of girls and women with TS. This new international guideline is based on an international effort that started with exploratory mee...

Treatment with GH during childhood and adolescence allows a considerable gain in adult height. SHOX deficiency explains some of the phenotypic characteristics in TS, principally short stature. Puberty has to be induced in most cases, and female sex hormone replacement therapy should continue during adult years. These issues are normally dealt with by the paediatrician, but once a TS female enters adulthood it is less clear who should be the primary care giver. Morbidity and mo...

In Turner persons questionnaire surveys have identified quality of life, perception of health and education to be at a similar or higher level compared to the background population. To shed further light on these seemingly paradoxical findings in Turner persons we aimed to analyze various socio-economic parameters in Turner persons compared to an age-matched female background population.All diagnosed Turner syndrome women nationwide (n=977) were i...

Introduction: Disorders of sex development where females have a 46,XY karyotype can be seen. Main reasons for this are the conditions of androgen insensitivity syndrome (AIS) and gonadal dysgenesis. The clinical phenotype of both conditions is variable and can present from an undervirilized or infertile male to an individual with ambiguous genitalia at birth, to a pure female phenotype with unambiguous genitalia, who first present in adolescence with primary amenorrhoea and/or...

Background: Several studies have documented an altered body composition in Turner syndrome (TS), a model of premature ovarian failure. Body fat is increased and muscle mass is decreased. The ovarian failure necessitates substitution with female hormone replacement therapy (HRT) for a number of years, and HRT induces favourable changes in body composition with a decrease in body fat and an increase in fat free mass. It is unknown how HRT affects protein metabolism.<p class=...

Aim: We aimed to describe mortality for both gender in children and adults, in Growth Hormone Deficiency (GHD).Materials and methods: Using three national registries: The Causes of Death Registry, The National Patient Registry, and The Cancer Registry, and The International Classification of Diseases as a filter, we identified a primary cohort of 9,131 patients. All had a high a priori risk of having GHD. All available hospital files (representing 90.2% ...

Background: Turner syndrome (45,X; TS) and Klinefelter syndrome (47,XXY; KS) present with a range of clinical features due to copy number aberrations of the X chromosome. The underlying genetics of these syndromes have revealed karyotype-dependent transcription and methylation patterns, and implicated genes that escape X chromosome inactivation (XCI). Alterations in the expression pattern of non-coding RNAs has previously been reported in TS and KS, yet the landscape of circul...