Endocrine Abstracts

A 35 year old steel worker with a background of congenital adrenal hyperplasia (CAH) presented with a six month history of bilateral testicular swellings. CAH was diagnosed at 2 weeks of age. He was discharged from the paediatric service at 18 years and remained on an unchanged of hydrocortisone 10mg BD and fludrocortisone 0.25mg OD from that time. Two younger male siblings, of equal stature, and a nephew of 18 months were unaffected. He was normotensive, final height 5 8, wit...

Introduction: Osteoporosis and fractures are common in liver disease and fracture incidence increases after orthotopic liver transplantation (OLT). The value of bone turnover markers (BMTs) in the prediction of bone loss and fracture risk pre- and post-OLT is not known.Study design: The BMTs P1NP, osteocalcin, BALP and CTX were measured initially or in Biobank stored sera at screening and at 3, 6 and 12 months post-OLT in consecutive OLT recipients betwe...

PTH promotes conversion of 25-hydroxyvitamin D (25[OH]D) to 1,25-dihydroxyvitamin D (1,25[OH]2D), thus stimulating intestinal calcium and phosphate absorption. Because of low PTH levels in hypoparathyroidism, patients are prescribed calcitriol. Patients are predisposed to hyperphosphatemia owing to loss of PTH-stimulated phosphate excretion by the kidneys. Effects of rhPTH(1–84) on vitamin D metabolism and serum phosphate were studied.In ...

Context and objective: Active Cushing’s disease is associated with cognitive impairments. We hypothesized that previous hypercortisolism in patients with Cushing’s disease results in irreversible impairments in cognitive functioning. Therefore, our aim was to assess cognitive functioning after long-term cure of Cushing’s disease.Design: Cognitive assessment consisted of 11 tests, which evaluated global cognitive functioning, memory, and ex...

Background: Patients with neuroendocrine tumors (NETs) have a 5-year survival rate of 30-60%. Surgery, and newly approved ‘tar-geted radionuclide therapy (TRT)’ with [177Lu]DOTATATE, are the only curative options for patients with NETs. TRT is limited to pa--tients that have high levels of somatostatin receptor subtype 2 (SSTR2) and can im-prove the survival of patients with low-grade tumors, but has little effect on high-grade NETs that express low SSTR2 ...

Background: Various social determinant of health (SDOH) metrics and indices are utilized to evaluate access to cancer care and to explain disparities in outcome in pancreatic neuroendocrine tumors (PNETs). Little prior work has compared the validity of various geographic metrics. Therefore we aimed to examine different geographic metrics validity (from smallest to largest: census block group< census tract< zip code< county) utilizing single institutional data in a ...

Background: Tumor size and lymph node involvement (stage) have been utilized to prognosticate pancreatic neuroendocrine tumors (PNETs) but the influence of race and social vulnerability on these factors remains unexplored. Therefore we sought to explore this in a racially and socioeconomically diverse cohort.Methods: We reviewed records of all patients who underwent surgical resection for PNETs from 2006-2022 at a single NCI-designated cancer center in t...

Pseudohypoparathyroidism (PHP) refers to a group of heterogeneous genetic diseases, characterized by resistance to PTH and frequently other hormones activating cAMP-dependent events down-stream of different G protein-coupled receptors. PHP-Ia and Ib, the most frequent forms, are caused by mutations within the GNAS locus that encodes Gαs and several splice variants thereof. We describe a 36-year-old man with sporadic PHP-Ib with renal PTH-resistance, yet severe hyperparath...

Introduction: The etiology of the increased mortality seen in Prader–Willi syndrome (PWS) is not completely known. In this context, it has been suggested that central adrenal insufficiency (CAI) due to hypothalamic dysfunction may be responsible for unexplained deaths. However, data on hypothalamic-pituitary–adrenal (HPA) axis in PWS are still conflicting. Because adrenal insufficiency is a life-threatening disease, its diagnosis should be precise, urgent and reliabl...

Hyperparathyroidism jaw tumour syndrome (HPT-JT) is an autosomal dominant disease with variable penetrance. Onset is typically in late adolescence or early adulthood. Primary hyperparathyroidism is typically caused by a single parathyroid adenoma but parathyroid carcinoma occurs in 10–15%. Ossifying fibroma of the mandible or maxilla occurs in 30–40%, and may be locally aggressive. 15% of patients have renal manifestations which include polycystic kidney disease, Wil...