Endocrine Abstracts

The UK Turner Study examined in girls with Turner syndrome (TS) the impact on final height (FH) of Oxandrolone (Ox) and/or delayed pubertal induction (14y).Methods: Girls with TS aged 7–13y receiving GH were randomised to Ox (0.05 mg/kg per day, max. dose 2.5 mg/day) or placebo from 9y (or from enrolment if >9y). Girls requiring oestrogen were further randomised to begin oral Ethinylestradiol (E2) (Y1:2 μg/day; Y2:4 μg/day; ...

Background: Classic 21-hydroxylase deficiency (21HD) presents some traits of the metabolic syndrome. We aimed to characterize discrete alterations of lipid and carbohydrate metabolism in children and young adults with classic 21HD, which could predict early atherogenesis.Design: Cross-sectional comparative.Patients and methods: Of 27 Caucasian patients with classic 21HD (4–31 years); 27 sex-, age- and BMI-matched controls. Cli...

Background: Facial feminization or masculinization is particularly important in transpersons, both for self-image and social interaction. Females tend to have a smaller, rounder face, with more prominent cheeks and males tend to have a larger, more square face with frontal bossing. It is unknown whether cross-sex hormones can change these features. However, transgenders themselves often report facial changes due to hormone treatment. Therefore we aim to objectify if hormone tr...

Background: Investigating longitudinal changes in serum androgen levels in healthy men in relation to (changes in) body composition, lifestyle factors and intercurrent illnesses.Methods: Longitudinal observational study. 999 healthy men aged 24–46 years of whom 691 were re-evaluated after a mean period of 12 years. Serum SHBG, luteinizing hormone (LH) and follicle stimulating hormone (FSH) levels were measured using immuno-assays. Testosterone (T), ...

Anaplastic thyroid cancer (ATC) is the most aggressive thyroid cancer with a median survival of about 6 months. So far, no therapies offering a survival benefit are established. Thus, new therapeutic approaches are urgently needed. In general, genetic alterations leading to ATC increase PI3K and MAPK/ERK signaling and include mutations in receptor tyrosine kinases and tumor suppressor genes. They often occur together with the loss of P53, the most prevalent mutation in human A...

Anaplastic thyroid carcinoma (ATC) is a rare and aggressive malignancy with only limited effective systemic treatment options. The identification of actionable genetic lesions and its exploitation has expanded therapeutic approaches and especially for the subset of BRAFV600E mutated ATC (11-25%) combined BRAF- and MEK-inhibition indicated meaningful activity. Still, further effective therapeutic options are required for patients without identifiable driver mutations. The role ...

Therapeutic strategy for the management of radioiodine-refractory differentiated thyroid cancer (rrDTC) and advanced medullary thyroid cancer (MTC) had changed with the introduction of the multityrosine-kinase-inhibitors (MKI) sorafenib&lenvatinib and vandetanib&cabozantinib respectively. Only recently, the market approval of pralsetinib (FDA) and selpercatinib (FDA and EMA) as first highly selective RET(rearranged during transfection)- inhibitors have expande...

Introduction: Determination of serum (calculated) free testosterone (FT) in clinical practice has been suggested by several clinical guidelines for the diagnosis of male hypogonadism in men with borderline total T concentrations and in situations with altered sex hormone-binding globulin, as it correlates better with androgen exposure than total T. The gold-standard for the determination of FT levels is considered to be directly measured free testosterone (mFT) using equilibri...

Introduction: Duchenne muscular dystrophy (DMD) is associated with progressive decline in muscle function and loss of ambulation in the teenage years. Objective assessments of upper limb performance are required but functional assessments and magnetic resonance imaging (MRI) are time consuming and costly. ACTIVE-seated (Ability Captured Through Interactive Video Evaluation) is a fun, inexpensive, movement tracking video game that can measure Functional Reaching Volume (FRV). <...

Transcriptional enhancers, which function as nucleation sites for the assembly of transcription-regulating complexes across the genome, drive cell type-specific patterns of gene expression that underlie the distinct biological properties of different cell types. Although many features of active enhancers (e.g., H3K4me1, H3K27ac, enrichment of p300/CBP and Mediator, and enhancer RNA production) have been defined by genomic assays, the roles of these features in ERα enhance...