Skeletal complications in acromegaly.

Hypersecretion of growth hormone (GH) is rare and typically results from a pituitary functional tumor - somatotropinoma. It leads to excessive linear bone growth and manifests as gigantism if occurring in childhood and adolescence, before the closure of epiphyses or as a acromegaly in adulthood. The excess of GH impacts bone metabolism directly as well as indirectly through increased insulin-like growth factor 1 (IGF-1). In acromegaly as a consequence of overproduction of GH and IFG-1 and the influence of these hormones on bone osteoblasts, bone metabolism, growth and density increase. However, bone turnover is accelerated causing impaired bone microstructure and strength, which may lead to increased risk of vertebral fractures irrespective of normal bone mineral density. Apart from the changes in bone architecture, acromegaly also results in a degenerative joint disease of a different nature than primary osteoarthritis. Moreover, acromegaly leads to cardiovascular, metabolic and respiratory complications, and thus significantly impairs the quality of life. In this review, authors summarize the pathophysiology, diagnosis, and treatment of bone and joint disease in acromegaly.

The influence of growth hormone deficiency on bone health and metabolisms.

Growth hormone (GH) is a key peptide hormone in the regulation of bone metabolism, through its systemic and paracrine action mediated directly as well as by insulin-like growth factor-1 (IGF-1). Growth hormone exerts pleiotropic effects leading to an increase in linear bone growth, accumulation of bone mineral content and preservation of peak bone mass. Furthermore, it influences protein, lipid, and carbohydrate metabolism.Growth hormone deficiency (GHD) causes a low bone turnover rate leading to reduced bone mineral density (BMD) and increased bone fragility. The results of GH insufficiency are the most pronounced among children as it negatively affects longitudinal bone growth, causing short stature and in adolescents, in whom it hinders the acquisition of peak bone mass. Most studies show that treatment with recombinant human growth hormone (rhGH) in GHD patients could improve BMD and decrease fracture risk. This review aims to summarize the pathophysiology, clinical picture and management of bone complications observed in GHD.

Severe ectopic Cushing syndrome in a transgender man with a metastatic gastrinoma and an adrenal tumor-A case report and review of the literature.

A 38-year-old transgender man with advanced metastatic functional pancreatic neuroendocrine neoplasm (PanNEN) gastrinoma was admitted to the Department of Endocrinology due to severe ACTH-dependent hypercortisolemia. An ectopic production of ACTH by PanNEN was suspected. The patient qualified for bilateral adrenalectomy after preoperative treatment with metyrapone. Finally, the patient underwent resection of the left adrenal gland with the tumor only, which surprisingly resulted in a significant decrease in ACTH and cortisol levels, leading to clinical improvement. Pathology report revealed an adenoma of the adrenal cortex with positive ACTH staining. The result of the simultaneous liver lesion biopsy confirmed a metastatic NEN G2 with positive ACTH immunostaining as well. We looked for a correlation between gender-affirming hormone treatment and the onset of the disease and its rapid progression. This may be the first case describing the coexistence of gastrinoma and ectopic Cushing disease in a transsexual patient.

Long-term Survival in a Child with Malignant Insulinoma After Liver Transplantation.

Insulinoma belongs to pancreatic neuroendocrine tumors and is immensely rare in children. The tumor leads to severe consequences of hypoglycemia caused by excessive insulin release. We report a pediatric patient with malignant insulinoma linked with liver transplantation due to metastases to this organ. A 13-year-old girl presented with symptoms of hypoglycemia due to hyperinsulinism. In computed tomography (CT), a polycyclic lesion in the head of the pancreas and enlarged lymph nodes were revealed. Modified Whipple's operation was performed, and histological examination confirmed pancreatic neuroendocrine tumor. CT of the body showed an enlarged liver with numerous metastases. Allogeneic liver transplantation was carried out successfully. Positron emission tomography-computed tomography (PET/CT) using 68Ga-DOTA-labeled somatostatin analogs at the age of 22 confirmed the complete metabolic remission. The patient currently remains under immunosuppressive and antiproliferative treatment. Multiple surgical interventions, liver transplantation combined with somatostatin analogs, and immunosuppressive medication could be effective in malignant insulinoma.

Pituitary abscess in an eight-year-old girl - diagnostic difficulties.

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