Endocrine Abstracts

Context: Anti-programmed cell death-1 (Anti-PD-1) antibodies have revolutionized advanced cancer therapy. Anti-PD1 therapy is responsible for immune-related adverse events, with frequent endocrine manifestations. Acquired generalized lipodystrophy (AGL), is a rare disease, thought to be immune-mediated, characterized by loss of adipose tissue and insulin resistance-associated complications. We describe the first case of AGL induced by immune checkpoint therapy.<p class="ab...

Background: Survivors with Fontan circulation suffer from chronic systemic hypoperfusion resulting in end-organ injury. Little is known about the effects of these hemodynamic perturbations on bone. We hypothesized that chronic Fontan circulation (>5 years after surgery) would be associated with bone deficits.Methods: Peripheral quantitative computed tomography (pQCT) was performed on 10 Fontan patients (seven males, 11.8±1.7 years) and 11 health...

Objective: To describe the clinical presentation, management and treatment outcomes of prolactinomas diagnosed in childhood and adolescence in a consecutive series.Design and Methods: A retrospective review of medical records of patients with prolactinoma less than 20 years at diagnosis, referred to a tertiary paediatric endocrine service between 1996 and 2018.Results: Twenty-three patients (14 females) were identified; median age ...

Background: Clinically non-functioning pituitary macroadenomas (NFMA) have been reported to express various somatostatin receptor (SSTR) subtypes, but results are inconsistent across different studies. This may be related to limited sensitivity and specificity of techniques used to date, i.e. immunohistochemistry in surgical specimens and 111In-DTPA-octreotide scintigraphy (Octreoscan) in vivo. The aim of this study was to assess SSTR expression in NFMA <em...

Background: Cushing’s disease is caused by corticotroph tumours of the pituitary gland and the standard first-line treatment is trans-sphenoidal surgery. Published data from other centres describes post-operative endocrine remission achieved in 50–90% of cases.Table 1 Remission (cortisol <50)Cortisol (50–150 nmol/l)<td alig...

DICER1 is a microRNA processing-RNase III-type endoribonuclease and is crucial for embryogenesis and early development. Nearly 50 different heterozygous germ-line DICER1 mutations have been reported world-wide in individuals who developed, as children or young adults, pleuropulmonary blastoma, cystic nephroma, ovarian sex cord stromal tumors (especially Sertoli–Leydig cell tumor), multi-nodular goiter, embryonal rhabdomyosarcoma (of cervix and other typical sites), Wilms ...

Introduction: Loss-of-function mutations in PROK2 and PROKR2 in humans have been associated with Kallmann syndrome (KS), characterised by the combination of hypogonadotrophic hypogonadism with anosmia, suggesting that both are critical for GnRH neuronal development.Objective: KS has overlapping phenotypes and genotypes through FGF8 and FGFR1 with congenital hypopituitarism including septo-optic dysplasia (SOD) and thus we aime...

In a monocentric study on 48 patients with insulinomas treated between 1988 and 2008, we evaluate the results of the radiological and surgical procedures, and determine prognostic factors regarding the recurrence risk. Clinical, radiological, and histopathological findings were analysed along with long-term follow-up after surgery. Kaplan–Meier analysis studies recurrence-free survival, and uni- and multi-variable analyses determine prognostic factors related to recurrenc...

The nuclear receptor steroidogenic factor 1 (SF1/AdBP4/FTZF1, NR5A1) is a key regulator of adrenal and gonadal development, steroidogenesis and reproduction, and targeted deletion of Nr5a1 (Sf1) in the mouse results in adrenal and gonadal agenesis, XY sex-reversal and persistent Müllerian structures in males. Consistent with this phenotype, DNA-binding mutations in SF1 have been reported in two 46,XY female patients with primary adrenal failure and uterine s...

Background: Continuous glucose monitoring (CGM) is an increasingly important diabetes technology that has the potential to facilitate the avoidance of low glucose values. However, there is a paucity of information on admitted patients’ characteristics, management, and outcomes of those admitted with hypoglycaemia despite being on CGM.Objective: To explore the characteristics of the patient population, precipitating factors and outcomes of people adm...