Endocrine Abstracts

The complete or partial absence of one of the two X chromosomes in a female with characteristic phenotype appearance entitles to Turner syndrome (TS) diagnosis. Monosomy of X chromosome (45,X) is prevalent, however some patients are mosaic and carry one or more additional cell lines, also with Y chromosome. The karyotype variability reflects the wide clinical spectrum of the syndrome. The prevalence of spontaneous puberty is 6% for 45,X and more than 50% for other karyotypes. ...

Gonadotropin levels in all Turner syndrome (TS) patients present a diphasic pattern: highest in early childhood, declining at 6–10 years of age, and then increasing again. Here, we have investigated whether karyotype or FSH&LH can be used as indicators of spontaneous puberty in TS. From a consecutive group of 139 TS girls treated at one clinical center (1996–2015) the clinical & biochemical data were finally analyzed in 110 TS patients (1268 visits). The stud...

The aim of the study was to evaluate hormonal profile in diabetic adolescent girls with menstrual disorders and compare them to regularly menstruating diabetic and healthy girls.We studied 54 adolescent girls with T1DM treated with intensive and continuous insulin therapy in the chronological age of 15.9±1.3 years and gynecological age of 33.7±16.7 months with the mean HbA1c for the last year 7.4±1.5%. In 18 (33%) girls menstrual disturban...

Background: Turner syndrome (TS) predisposes to autoimmune diseases such as thyroiditis, coeliac disease, diabetes mellitus type 1, inflammatory bowel diseases, alopecia and vitiligo. The prevalence of autoimmunity increases with age and more than one autoimmune disease can coexist together in one patient. The possible factors leading increased autoimmunity in TS are not clear.Aim: To compare the panel of autoimmunity markers in 37 TS girls (40.5% with 4...

Type II germ cell tumors are predictable complications in patients with disorder of sex development (DSD) and with Y chromosome present. The risk of tumor development varies significantly between subsets of DSD and in some cases early gonadectomy is perceived as overtreatment.The aim of the study was to analyze the gonadal tumor incidence in 45,X/46,XY and 46,XY patients who were reared as female and managed at single institution between 1997 and 2013.</...

Introduction: Disorders of Sex Development (DSD) can be associated with an increased risk of germ cell tumours depending on the underlying diagnosis. To date however knowledge regarding the indications and timing of gonadectomy is lacking.Methods: The I-DSD Registry was interrogated for anonymised information regarding the diagnosis, karyotype, sex of rearing and timing of gonadectomy, if undertaken, of all individuals of any karyotype who were over the ...

Aims: We studied the association of newborn screening (NBS) on early infancy outcomes in 21-hydroxylase deficiency (21OHD) congenital adrenal hyperplasia (CAH), using I-CAH registry data.Methods: From 2018-2023, data was available for 121 infants with 21OHD CAH (52 male) during the first 90 days of life from 26 centres in 15 countries. NBS was performed in 15 centres from 9 countries.Result...