Endocrinology

Coming Soon

• Hyperlipidemia is a set of metabolic disorders that are characterized by too many lipids in the blood. Lipids or fats include cholesterol and triglycerides. An excess of lipids causes increased fatty acid deposits which leads to blockages in the arteries. Genetic hyperlipidemia is mostly inherited in an autosomal dominant manner but can also be inherited in an autosomal recessive way. Hyperlipidemia is a general term used to identify a disease associated with too many lipids and/or fats in the body, Hypercholesterolemia is one of the most common forms of hyperlipidemia.

Specialties involved – Cardiology, endocrinology

• Maturity-onset diabetes of the young (MODY) is a set of inherited disorders that present in adolescence or young adulthood and affect an individual’s blood sugar level. Individuals diagnosed with this condition have very high blood sugar levels due to reduced production of insulin. MODY is inherited in an autosomal dominant manner and cases can arise de-novo (for the first time) in the affected individual

Specialties involved: endocrinology

• Disorders of Sex Development (DSD) occur when there is a discrepancy between the appearance of the genetalia and the genetic makeup of an individual. These disorders can present from birth to adolescence. DSD can be mild or significant depending on the appearance of the Gentelia and associated symptoms. DSD can be caused by changes at the chromosomal level and the gene level thus the inheritance pattern of DSDs can be dominant, recessive or sex-linked. Additionally, DSDs can occur due to de novo changes in the DNA (for the first time in the affected individual)

Specialties involved: Endocrinology, urology, gynecology, neonatology

• pancreatitis is a condition that occurs when the pancreas becomes inflamed and so leads to adverse symptoms. Hereditary pancreatitisis caused by repeated episodes of pancreas inflammation, symptoms usually begin within the first two decades but can start at any time. Most cases are inherited in an autosomal dominant manner or due to a de novo gene changeSpecialties involved: Endocrinology

• Congenital Adrenal Hyperplasia (CAH) is a group of diseases that are associated with variants or mutations in the genes that are involved in some hormone production. Specifically, CAH occurs when there is an excess of hormones in the adrenal gland. This condition is associated with recessive inheritance and is usually diagnosed at birth. An imbalance of body hormones could have sever effects throughout and individual’s lifetime including problems with fertility, obesity and hypertension. The nature of the genetic variants and genes associated with CAH means that testing for the condition is not straight forward. CAH can be tested for in three ways – CYP21A2 gene sequencing, CYP21A2 del/dup by MLPA and a gene panel associated with CAH not including the CYP21A2 gene.

Specialties involved – endocrinology, neonatology, fertility specialists

Talk to Igenomix’s genetic counsellors or geneticist for more information if you are concerned about CAH.