Genetic disorders of the endocrine system

The following endocrine disorders may have a genetic cause

• Hyper-/hypoparathyroidism
• Certain forms of diabetes (including MODY, neonatal diabetes mellitus)
• Congenital hyperinsulinism
• Adrenogenital syndrome  (Sanger sequencing and MLPA analysis of the CYP21A2-Gene)
• Hypogonadotropic hypogonadism
• Hypopituitarism

Endocrine disorders may also be part of a syndrome (e.g., Kallmann, McCune-Albright, Klinefelter, Turner and Down syndrome). If Klinefelter, Turner or Down syndrome is suspected, chromosomal analysis should be performed.

In addition, malignant diseases of the endocrine system may have a genetic cause.