Endocrine Abstracts

Introduction: Medullary and papillary thyroid carcinoma (MTC and PTC) are two types of thyroid cancer that can originate from activating mutations or rearrangements in the RET gene. Therapeutic options are limited in recurrent disease but since RET is a tyrosine kinase (TK) receptor involved in cellular growth and proliferation, treatment with a TK-inhibitor might be promising. Several TK-inhibitors have been tested in clinical trials, but it is unknown which inhibitor is most...

Aims: To compare the effect of a standard Sex Steroid Regimen (sSSR) with a physiological SSR (pSSR) on androgen status in young women with premature ovarian failure (POF).Patient Population: Seven women with POF were evaluated for the study. The median age was 28 years (range 21–36) and the median duration of ovarian failure was 14 years (range 4–25).Methods: An open label randomised, controlled, crossover study over 28 ...

Riedel thyroiditis is an uncommon form of chronic thyroiditis in which the thyroid gland is replaced by fibrous tissue. The etiological mechanism underlying RT are unclear. The prevailing view is that it is part of a generalized fibro-inflammatory process also involving other organs. Therapeutic options are not standardized (surgery, corticosteroids, and more recently tamoxifene). The aim of this work is to present three new cases, and the favourable evolution observed in one ...

Background: Benign adrenal tumours are discovered in 3-10% of adults and can be non-functioning (NFAT) or associated with adrenal hormone excess, most frequently mild autonomous cortisol secretion (MACS) defined by the failure to suppress cortisol after 1 mg dexamethasone overnight but lack of distinct signs of Cushing’s syndrome (CS). We found that MACS increases the prevalence and severity of type 2 diabetes and hypertension and primarily affects women (Ann Int Med. 202...

Background: TMEM38B is a ubiquitously expressed monovalent cation-specific channel protein hypothesized to play a role in intracellular calcium homeostasis. To date, only two unique recessively inherited exon deletions in TMEM38B have been reported in 17 individuals with osteogenesis imperfecta (OI). Data on bone histomorphometry and bone material property have not previously been presented.Cases: Targeted next generation sequencing was performe...