Genetic endocrine disorders


Overview

There are several genetic endocrine disorders that can lead to a greater risk of cancer of the endocrine system, including carcinoids (malignant tumors that develop in hormone producing cells of the adrenal glands).

Symptoms

Symptoms of endocrine genetic disorders may include:

  • Growth delay
  • Short statue
  • Delayed sexual development
  • Failure to thrive
  • Cancer of the adrenal glands

Types

Prader-Willi syndrome

Prader-Willi syndrome (PWS) is a genetic endocrine disorder which occurs when a baby inherits both copies of a section of chromosome number 15 from the mother. PWS can also occur when chromosome number 15 is inherited normally. Additionally, if that section of the father's chromosome numveber 15 is deleted, only the mother's contributing section remains, resulting in PWS symptoms to manifest. This latter development happens in 60 to 70 percent of PWS cases.

Babies born with the genetic endocrine disorder PWS have poor muscle tone and a weak cry. They initially are slow feeders and appear undernourished. The feeding problem improves after infancy, however typically between two to four years of age, the child becomes obsessed with food and is unable to control their appetite. The overeating often results in rapid weight gain and obesity. Individuals with PWS have short stature, small hands and feet, and mental retardation.

McCune-Albright syndrome

The endocrine disorder McCune-Albright syndrome is a form of fibrous dysplasia with symptoms that include early onset of puberty and skin spots, called café-au-lait spots.

Multiple endocrine neoplasia syndrome

Multiple endocrine neoplasia syndrome is a rare endocrine disorder sometimes associated with adrenal gland tumors, called pheochromocytomas.