Endocrine Abstracts

In a double-blind study, 106 patients (44 males, 62 females, age 20-64 years) with Addison's disease, were randomised to receive either 50mg of micronised DHEA or placebo orally daily for 12 months. Psychological and biochemical parameters were measured at baseline, 3 to 6 month intervals and post-washout; bone mineral density (BMD) and body composition were assessed by DEXA at baseline and 12 months.DHEAS levels rose significantly and were maintained th...

Background: GH insensitivity (GHI) presents with growth failure, IGF-1 deficiency and normal/elevated GH (basal >5 μg/l and/or peak >10 μg/l). GHI encompasses a spectrum of clinical and biochemical abnormalities. Associations between phenotypic characteristics and genetic defects remain obscure.Objective: Identify phenotypic predictors of underlying genetic defects in GHI.Methods: In total of 102 children (62M) me...

Introduction: Isolated congenital central hypothyroidism (CeCH) is a rare entity associated with mutations in IGSF1, TSHB, TRHR, or the coding region of TBL1X. We describe a female with CeCH and extrathyroidal features due to a partial X-chromosomal deletion involving TBL1X and other genes. Further studies showed markedly reduced TBL1X expression in patient-derived leukocytes and enabled linkage of particular clinical phenotypes to ...

Background: Pathogenic IGFI gene mutations causing childhood growth failure are extremely rare. Only five autosomal recessive mutations, one IGFI copy number variant and two heterozygous frameshift mutations are reported. Heterozygous missense IGFI mutations haven’t previously been described.Objectives: To identify and functionally characterise a novel missense IGFI variant in a patient with postnatal growth failu...

Background: Subspecialty tumor boards (TB) are uncommon and their benefit has not been clearly demonstrated for patients and providers alike. We tried to determine the decision patterns of a newly minted neuroendocrine neoplasm (NEN) tumor board (TB) and the factors behind those.Methods: We retrospectively reviewed all NEN TB recommendations from 07/2018 to 12/2021 and recorded patient characteristics, TB outcomes and associations between them.<p cla...

Background: GH Insensitivity (GHI) is usually caused by mutations in the GH receptor (GHR). Our centre previously described the first GHR pseudoexon mutation (42700896A>G, c. 618+792A>G). Inclusion of this 108bp pseudoexon is predicted to lead to in-frame insertion of 36 amino acid residues in the dimerization domain of the GHR. This results in defective trafficking rather than impaired signalling, causing partial loss-of-function and moderat...

Background: Thyrotropinomas (TSHomas) are traditionally considered a rare, albeit important cause of thyrotoxicosis. Although early case series reported a predominance of invasive macroadenomas, emerging evidence suggests microadenomas are being increasingly diagnosed, and the clinical/biochemical phenotype appears to be more variable than previously suspected. We therefore performed detailed phenotyping of patients referred to our centre with a diagnosis of TSHoma over a 4-ye...

Background: Growth Hormone Insensitivity is usually caused by mutations in the Growth Hormone receptor (GHR). Patients present with short stature, high GH levels, low IGF-I levels and typical Laron syndrome facial features. Our centre previously described the first GHR pseudoexon mutation (42700896A>G, c.618+792A>G). The inclusion of this pseudoexon is predicted to cause in-frame insertion of 36 amino acid residues between exons 6 and 7. This insertion in the ...

Background: Thyrotropin secreting adenomas (TSHoma) are considered to be rare pituitary tumours. However, improvements in imaging techniques and greater use of more sensitive thyrotropin (TSH) assays has led to a recent increase in the detection rate of TSHomas and, specifically, the identification of more microadenomas. Surgery is considered the mainstay of treatment, however, primary medical therapy with somatostatin analogues is an emerging alternative therapeutic option.</...

Background: Hyperthyroxinaemia with non-suppressed TSH, due to resistance to thyroid hormone (RTH) or TSH-secreting pituitary tumour (TSHoma), can be difficult to diagnose, particularly with coincident autoimmune thyroid disease (AITD).Methods: To determine presentation patterns of AITD coincident with RTH or TSHoma, we analysed our cohort of cases with dual diagnoses.Results: Nine patients with RTH had AITD. Six had Graves’ d...