Endocrine Abstracts

Clinically non-functioning pituitary adenomas (NFA) are common anterior pituitary tumours, arising from a variety of pituitary cell types, but little is known of their pathogenesis. The vast majority of NFA are benign tumours; some of which may remain intrasellar, while others may exhibit expansive extrasellar growth and/or become invasive and infiltrate dura and bone. Pituitary carcinoma, defined as a tumour with subarachnoid, brain or systemic metastases is very rare. Determ...

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. ...

Combination of Turner syndrome (TS) and classical congenital adrenal hyperplasia (CAH) is rare worldwide. Incidence of CAH - autosomal recessive disorders characterized by enzyme defect of steroidogenic pathway, of which 90% ocuurs in the CYP21A2 gene coding 21-hydroxylase is 1:10000-16000. Incidencie of Turner syndrome is 1:2500 worldwide. Phenotypically, females with TS may present with a wide spectrum of clinical features. They may exhibit short stature, virilization, prema...

Introduction: Children and young people with Turner Syndrome have regular follow up with a paediatric multidisciplinary team to monitor growth, puberty and cardiac comorbidities. As these young women transition to adult care, they need ongoing follow-up for surveillance of potential morbidity and reproductive issues. Following publication of the International Turner Syndrome Consensus Group guidelines on transitional care, a review of current clinical practice in our tertiary ...

Turner’s syndrome is one of the most common chromosomal abnormalities affecting 1 in 2500 live births. Short stature and gonadal dysgenesis are known as the hallmarks of the syndrome since Henry Turner described the original cases in the late 1930s. Although the majority of these patients have streak ovaries as a result of stromal fibrosis, the uterus is intact, albeit with atrophic endometrium due to the hypoestrogenic state. We report a case of ...

Introduction: Turner syndrome is a chromosomal disorder that affects an estimated 1/2500 female live births. An estimated subset of 6-12% of all Turner Syndrome patients will be a mosaic with Y-chromosomal elements. It is recognized that a Turner female possessing Y chromosome material has an increased risk of developing gonadoblastoma, a precursor to dysgerminoma. Consequently guidelines recommend prophylactic gonadectomy in Turner females.Obsevation: W...

Turner syndrome (TS) affects over 15,000 females in the UK and is defined by the loss of X chromosome material. In the setting of an adult clinic we can observe adverse outcomes and determine their risk factors. For instance women with TS have an excess risk of hypertension, diabetes, fatty liver and osteoporosis. The Turner Syndrome Life Course Project at UCLH has collected data from over 750 women with TS over 20 years. Here we report the influence of weight on these outcome...

Introduction: Turner syndrome (TS) is a genetic condition, that results from the complete or partial loss of the second X chromosome in phenotypic females. Typically, patients with TS have growth retardation, altered pubertal development and facial dysmorphism. It’s also associated with other comorbidities.Aim: Here we report a rather rare finding which is the association of TS and Rokitansky-Küster Hauser (RKH) and we discuss the possible ethi...

Background: Turner syndrome (TS) occurs in approximately 1 in 2500 live female births. The frequency of pregnancies in TS patients is 2-5%. However, these pregnancies are at high risk of recurrent miscarriage, malformations in the children and poor cardiovascular outcomes in pregnant TS females.Case presentation: A 34 year-old woman was diagnosed with TS (46XX/46Xr) at age 9. From 16 to 20 years old she was treated with sex hormone replacement therapy an...

Aims: Spontaneous pregnancy (SP) in Turner’s syndrome (TS) has been reported, with a prevalence of 2 to 7%. The aim of this study was to evaluate the prevalence and the outcome from spontaneous pregnancies (SPs) in a cohort of women with TS from a single centre, in order to give realistic counselling regarding options for fertility.Methods: We considered the following data: karyotype, age at diagnosis of TS, age at the time of the study, cardiac, an...