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Presentation: Pregnant patient with a genetic diagnosis of maturity onset diabetes of the young, subtype glucokinase

For pregnancies at risk of maternally-inherited glucokinase maturity onset diabetes of the young (GCK-MODY, also known as monogenic diabetes, subtype glucokinase and GCK monogenic diabetes, a form of monogenic diabetes) where knowledge of fetal genotype will impact pregnancy management, delivery and immediate postnatal care, it may be possible to design a bespoke non-invasive prenatal diagnosis (NIPD) assay.

Presentation: Patient with resistance to thyroid hormone

Resistance to thyroid hormone is characterised by defects in the thyroid hormone receptors due to pathogenic genetic variants, resulting in reduced responsiveness to the action of thyroid hormone.

Presentation: Patient with possible familial AVP-related polyuria

Arginine vasopressin (AVP) related polyuria, which includes AVP-deficiency and AVP-resistance, has a prevalence of 1 per 25,000 population. Hereditary AVP-deficiency accounts for approximately 1% of all AVP-deficiency cases. Hereditary AVP-resistance has an estimated incidence of approximately 1 per 1,000,000.

Resistance to thyroid hormone

Resistance to thyroid hormone is characterised by defects in the thyroid hormone receptors due to pathogenic genetic variants, resulting in reduced responsiveness to the action of thyroid hormone.

Inherited phaeochromocytoma and paraganglioma

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

Congenital hypogonadotropic hypogonadism

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

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

Monogenic obesity

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

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

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.