Endocrinology

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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.

The genetic basis of endocrine disorders includes both monogenic as well as multifactorial or complex disorders. 

The disorders of the endocrine glands and tissues can be broadly grouped into: reproduction and sexual differentiation, development and growth, metabolism, regulation of nutrient supply and maintenance of homeostasis. 

The incidence of Disorders of Sex Development (DSD) is more than 1:5000. 

The overall incidence of classical CAH in the general population is more than 1:15000 live births. Maturity Onset Diabetes in Young (MODY) is prevalence is approximately 1:10,000 in adults and 1:25000 in children.

• If your hormone levels are too high or too low, you may have an endocrine disease or disorder. Endocrine diseases and disorders also occur if your body does not respond to hormones the way it is supposed to.
•  If the individual has any of the following disorders:
• Ambiguous genitalia
• Dysgenic gonads
• Short stature
• Obesity with or without associated developmental delay
• Hyperglycemia with a strong family history

• 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.