Endocrine Abstracts

Background: While there have been major advances in the care of neuroendocrine tumors (NETs), there is still no widely adopted therapeutic sequencing in metastatic NETs. The roles and benefits of locoregional treatments need reassessment, in order to define a modern therapeutic algorithm. We examined contemporary short-term outcomes of liver-directed therapy for metastatic NETs.Methods: We conducted a population-based retrospective cohort study of patien...

Background: While the epidemiology of overall and gastrointestinal neuroendocrine neoplasms (NENs) has been reported, data specific to lung NENs remain scarce. Such understanding is crucial in designing tailored strategies to improve care and outcomes. We examined the incidence, overall survival (OS), and disease-specific death (DS-deaths) for lung NENs.Methods: We conducted a population-based retrospective cohort study of adult patients with incident lu...

Primary adrenal insufficiency in children can be due to mutations in >20 genes, most commonly CYP21A2, giving rise to 21-hydroxylase deficiency. Phenotypically these disorders overlap and present with conditions ranging from isolated (or familial) glucocorticoid deficiency (FGD) to syndromic disorders involving multiple tissues. Distinguishing between them can be problematic, especially where biochemical testing is not possible or not undertaken. Over the last 30 ...

Background: Somatostatin receptor ligands (SRLs) are first-line standard-of-care therapies for gastroenteropancreatic neuroendocrine tumours (GEP-NETs), showing efficacy in tumour and symptom control with an established safety profile. However, disease progression may occur despite standard-dose SRL treatment, requiring more aggressive and toxic treatments. Retrospective/non-randomized data suggest higher-dose SRLs may benefit patients with GEP-NETs who do not respond to stand...

Background: Primary adrenal insufficiency (PAI) can be associated with significant morbidity in children of all ages, the most common cause being Congenital Adrenal Hyperplasia (CAH). Several other rare inherited causes of PAI have been identified over the years which lack diagnostic phenotypic or biochemical signs, leaving genetic testing as the only approach to make a definitive diagnosis. Our cohort involves >440 patients who presented with features of PAI – hypogl...

Adrenal insufficiency (AI) is life-threatening and can present alone or in combination with other co-morbidities. Here we describe families with a novel association of AI with porphyria caused by biallelic mutations in protoporphyrinogen oxidase (PPOX) or coproporphyrinogen oxidase (CPOX). The porphyrias are a group of disorders caused by defects in one of eight enzymes within the haem biosynthetic pathway, divided into acute porphyrias, resulting in mainly n...

Introduction: Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is a rare autosomal recessive disorder characterized by deficiency of cortisol and oftentimes aldosterone, with elevated adrenocorticotropic hormone (ACTH) and steroid precursors that are shunted toward excess androgen production. A phase 2 study of adults with classic 21OHD demonstrated that crinecerfont–an oral, non-steroidal, selective corticotropin-releasing factor type...

Primary adrenal insufficiency (PAI) in children is usually congenital with more than 25 causal genes leading to overlapping phenotypes. A genetic diagnosis is helpful to guide management and genetic counselling but can be challenging in resource limited settings where facilities for antibodies and genetic testing may be unavailable. Studies from Africa are rare but, in Sudan, the most common genetic aetiologies for PAI are congenital adrenal hyperplasia (CAH; mostly CYP21A...

Objectives: The activating mutation (L206R) in PRKACA has been reported in more than 30–50% of cases with cortisol-producing adenomas (CPAs). We aimed to compare the clinical characteristics and gene expression profiling between PRKACA L206R mutant and wild type CPAs.Methods: We included 57 subjects with CPAs who underwent adrenalectomy at Seoul National University Hospital. Sanger sequencing for PRKACA w...

Background: TSH suppression therapy has been associated with hip and vertebral fracture. However, the relationship between TSH suppression and bone mineral density (BMD) remains controversial. The aim of this study was to evaluate the effect of TSH suppression therapy on cortical bone geometry in differentiated thyroid cancer (DTC) patients.Methods: This study included 122 subjects (19 men, 27 premenopausal women, and 75 postmenopausal women) who have be...