E20.1

Approximate Synonyms

• Pseudopseudohypoparathyroidism

Clinical Information

• A condition characterized by the insensitivity of the tissues to respond to the activity of the parathyroid hormone. It results in increased levels of parathyroid hormone in the serum, hypocalcemia, and hyperphosphatemia.

• A hereditary syndrome clinically similar to hypoparathyroidism. It is characterized by hypocalcemia; hyperphosphatemia; and associated skeletal development impairment and caused by failure of response to parathyroid hormone rather than deficiencies. A severe form with resistance to multiple hormones is referred to as type 1a and is associated with maternal mutant allele of the alpha chain of stimulatory g protein.

• Hereditary condition clinically resembling hypoparathyroidism, but caused by failure of response to rather than deficiency of parathyroid hormones; characterized by hypocalcemia and hyperphosphatemia, and commonly associated with short stature, obesity, short metacarpals, and ectopic calcification.

• Originally reported as a hypocalcemic syndrome similar to hypoparathyroidism, but with renal and skeletal resistance to parathyroid hormone pth) and designated as “pseudohypoparathyroidism.” albright later defined a normocalcemic variant which he termed “pseudopseudohypoparathyroidism.” two separate forms of pseudohypoparathyroidism are recognized. Type i in which there is no increase in the urinary excretion of cyclic adenosine monophosphate camp) and phosphate in response to parathyroid hormone pth). Type ii in which there is a response to pth, but without phosphate diuresis. The erythrocytes of some patients with type i contain a defective receptor-cyclase coupling protein stimulatory guanine nucleoside-binding protein, or gs) which is responsible for coupling the cellular receptor that binds parathyroid hormone pth) and is involved with the formation and release of cyclic adenosine monophosphate camp). This variant has been designated as “pseudohypoparathyroidism type ia.” the syndrome is associated with mental deficiency, dystrophic bone lesions, short stature, and other defects.

Details

• E20.1 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.

• The 2023 edition of ICD-10-CM E20.1 became effective on October 1, 2022.

• This is the American ICD-10-CM version of E20.1 – other international versions of ICD-10 E20.1 may differ.