Phaeochromocytomas and paragangliomas are rare neuroendocrine tumours that arise from the adrenal medulla and the sympathetic or parasympathetic ganglia respectively.

Congenital hypogonadotropic hypogonadism is a rare condition caused by variants in genes that are involved in the development and function of gonadotropin-releasing hormone.

Adrenocortical carcinoma is an aggressive endocrine malignancy with a generally poor prognosis.

Monogenic obesity is a rare and often severe form of obesity that is caused by a pathogenic variant in one of several different genes.

Multiple endocrine neoplasia type 2 is an inherited genetic condition characterised by a predisposition to hyperparathyroidism, medullary thyroid carcinoma, phaeochromocytoma and skeletal anomalies.

Premature ovarian insufficiency is the term used to describe ovarian dysfunction arising from an inherent defect within the ovary itself. Around 5%–10% of cases are thought to have a genetic cause, including sex chromosome aneuploidies such as Turner syndrome and the presence of pathogenic variants in autosomal and sex chromosome genes.

Pituitary adenomas are benign tumours that occur in the pituitary gland and can affect a patient in a number of ways – for example, by causing hormone deficit or excess. They are sometimes inherited.

Hereditary hypophosphataemic rickets is a group of conditions caused by various pathogenic genetic variants. They are characterised by skeletal developmental anomalies and muscle weakness.

Familial hypocalciuric hypercalcaemia is a genetic condition caused by variants in the CASR gene that results in lifelong elevated calcium levels.

Hypoparathyroidism is a rare condition in which the parathyroid glands produce too little parathyroid hormone. It can present as a condition by itself, or as part of a broader genetic syndrome.