Endocrine Disorders
OVERVIEW
Hereditary endocrine disorders affect the endocrine system which is a network of glands that produce and release hormones and help control or coordinate many body processes. Alterations in different types of endocrine glands can lead to varied symptoms. Low release of the hormone cortisol in adrenal glands can lead to adrenal insufficiency. Symptoms include fatigue, stomach upset, dehydration, and skin changes. Other endocrine glands include pituitary gland (Cushing’s disease, Gigantism) and thyroid gland (Hyperthyroidism, Hypothyroidism). Pathogenic variants in the androgen receptor lead to androgen insensitivity syndrome which is characterized by a female phenotype in an individual with an XY karyotype and testes producing age-appropriate normal concentrations of androgens. There is a partial (with predominantly female/male, or ambiguous external genitalia) and milder (with typical male external genitalia) form. Early identification of individuals at risk can help establish the right clinical management plan.
We offer comprehensive and syndrome-specific panels testing for endocrine disorders. The test can offer a molecular genetic diagnosis of an endocrine disorder that is observed or predicted in you/your child or a family member.
IMPORTANCE OF GETTING TESTED
If you or a family member has a risk of an endocrine disorder, identifying the cause can help to take actions to improve the outcome of the disorder. Additionally, family members can be informed and encouraged to also get tested. Our genetic counsellors can provide medical advice.
You have a family history
of endocrine disorders
You have a newborn with mismatch between
the prenatal sex prediction and the phenotype at birth
You/your child has a clinical diagnosis
and want to confirm
POSSIBLE OUTCOMES OF THE TEST
A molecular genetic diagnostic report outlining the results of the sequencing analysis is provided. Changes in DNA sequences (variants) can be detrimental and lead to the development of a cardiac or aortic disorder, including asymptomatic disorders that develop later in life. We will report pathogenic and likely pathogenic variants as well as variants of unknown significance.
Pathogenic and likely pathogenic variants mean the genetic cause of the observed symptoms has been identified and may help determine the right treatment and management plan.
Variants of unknown significance means there was not enough evidence to classify the variant as either pathogenic or neutral. Annual variant reclassification and testing family members is recommended.
It is important to note that a negative result does not guarantee the absence of a disorder or that the disorder does not have a genetic cause. Genetic testing is an evolving field and may not detect all variants or there may not currently be enough evidence to classify all variants that lead to an inherited disease.
