Etiology, Assessment and Management of WDHA (Watery Diarrhea, Hypokalemia, and Achlorhydria) and VIPoma

The syndrome of watery diarrhoea, hypokalemia, and achlorhydria (WDHA syndrome) is an uncommon disorder marked by severe, watery diarrhoea caused by non–beta pancreatic islet cell oversecretion of vasoactive intestinal peptide (VIP). The onset of the disease is gradual, and diagnosis is often months or years later. Long-term dehydration, electrolyte and acid-base abnormalities, and chronic renal failure are all linked to morbidity. Pancreatic endocrine tumours are extremely rare, with less than 10 incidences per million people. VIPomas are uncommon tumours that affect between 0.05 and 2.0 percent of people. The most prevalent symptom is diarrhoea, which affects at least 89 percent of patients. VIPoma is treated with a combination of medicine and surgery The goal of first medical treatment is to reduce symptoms and restore fluids and electrolytes as quickly as possible

A rare association of two endocrine tumours: non-functional oncocytic adrenocortical carcinoma and Papillary thyroid carcinoma

Objectives To describe a rare association of two endocrine tumours in a clinical case. Case presentation A 54-year-old woman with a classic Papillary thyroid cancer (PTC) assessed by the Endocrinology Department of a tertiary hospital from May-2015 to May-2020. PTC was treated with a total thyroidectomy and lymphadenectomy in May-2015. Initial staging (AJCC/TNM 7th edition): T3N1bMx. Additionally, two ablative doses of 150 mCi of 131-I (RAI) were administered until September-2016. No pathological uptake was found on the post-RAI whole-body scan at any level. Due to a persistent incomplete biochemical response in February-2017, a 18Fluor-dexosiglucose positron emission computed tomography (FDG-PET) was performed. FDG-PET showed an intense pathological deposit in the right adrenal, suggestive of malignancy. Right adrenalectomy was carried out, and pathology revealed an Adrenocortical carcinoma (ACC). Genetic syndromes associated to ACC are: Li-Fraumeni syndrome (caused by an autosomal mutation in the TP53 gene), the Multiple Endocrine Neoplasia (MEN) type 1 (caused by Menin gene mutations), and MEN type 4 (caused by heterozygous mutations in the CDNK1B gene). However, none of them are associated to PTC. Conclusions To our knowledge this is the sixth published case reporting an ACC in presence of a PTC. The pathological factors behind the relation between these malignancies have not been elucidated. We do not discard the possibility of a genetic relationship between PTC and ACC.

Oncology

Childhood cancer is different to adult cancers in a number of ways including site, type, and behaviour. The commonest childhood malignancies are leukaemia, tumours of the brain and spinal cord, and lymphoma (>75% of all childhood cancers). This chapter outlines the general principles, provides survival statistics and a glossary, before discussing Wilms tumour, liver tumours, intestinal neoplasia, neuroblastoma, testicular tumours, lymphomas, rhabdomyosarcoma, soft tissue neoplasia, endocrine tumours, and ovarian tumours.

Neuropsychiatry of neurometabolic, neuroendocrine, and mitochondrial disorders

This chapter examines the role of neurometabolic, neuroendocrine, and mitochondrial disorders in causing neuropsychiatric syndromes. It examines how disorders of cellular metabolic processes, particularly those that affect the brain, can result in major psychiatric syndromes and the over-representation of some neurometabolic disorders in psychiatric illness. It also discusses a range of endocrine disorders, particularly disorders of increased or reduced endocrine function and endocrine tumours, in producing psychiatric syndromes. The chapter also reviews the role of mitochondrial disorders in disrupting central nervous system processes and metabolism, and how some mitochondrial disorders result in psychiatric illness.

The Genetic Multiplicity- Multiple Endocrine Neoplasia type I

Multiple endocrine neoplasia type 1 (MEN1) is a syndrome emerging from characteristic mutations of MEN1 gene with concurrently enunciated multiple endocrine and tumours and associated non-endocrine neoplasm. Previously designated as Werner’s syndrome, MEN1 syndrome denominates genomic mutation within chromosome 11q13 or a tumour suppressor gene with a distinctive protein product nomenclated as “menin”. MEN1 syndrome demonstrates an autosomal dominant pattern of disease inheritance where genomic mutations delineate a comprehensive (100%) disease penetrance. MEN1 gene was initially identified in 1997 upon chromosome 11q13. Although twelve genetic mutations were primarily identified, currently beyond eighteen hundred genomic mutations are scripted1, 2. MEN1 syndrome is comprised of diverse combination of twenty or more endocrine and non-endocrine tumours exemplifying a classic triad of pituitary, parathyroid and pancreatic neoplasm. Diverse non endocrine tumours enunciated with MEN1 syndrome are denominated with meningioma, ependymoma or angiofibroma1, 2. Endocrine tumours are discerned on account of excessive hormonal secretion engendered from various neoplasm or on account of neoplastic evolution. Approximately 10% instances can occur due to a de-novo genomic variant. Offspring of an individual with MEN1 syndrome quantifies a 50% possibility of inheriting the genomic variant. Cogent prenatal diagnosis can be determined in instances where specific genomic variant of a particular family is known. Physical, psychological and social restrictions are prevalent with MEN1 syndrome. Heterozygotes with MEN1 genetic variant are denominated as carriers and manifest a two- fold possible mortality1, 2.