Pseudohypoparathyroidism type 1A in Child
Alerts and Notices
Important News & Links
Synopsis
![Pseudohypoparathyroidism type 1A : Short stature, Oligomenorrhea, Developmental delay, Cushingoid facies, Ca decreased, Hyperphosphatemia](/visualdx/sympticonswm/2165.png?r=1fdb69a28)
Pseudohypoparathyroidism type 1A is a rare, autosomal dominant syndrome caused by loss-of-function mutation in the GNAS1 gene. It specifically requires maternal transmission of the mutation to result in this clinical syndrome. This mutation leads to an inability to activate adenyl cyclase when parathyroid hormone (PTH) binds to its receptor. Affected patients have a series of clinical findings otherwise known as Albright hereditary osteodystrophy. These include short stature, obesity, round face, brachydactyly, subcutaneous ossifications, hypocalcemia, and hyperphosphatemia with elevated circulating PTH and osteitis fibrosa. This disease primarily presents in childhood.
In addition to PTH resistance, affected individuals also demonstrate resistance to thyrotropin (TSH), luteinizing hormone, follicle-stimulating hormone, and gonadotropin-releasing hormone. This is due to GNAS1 expression in the thyroid, gonads, and pituitary gland.
In addition to PTH resistance, affected individuals also demonstrate resistance to thyrotropin (TSH), luteinizing hormone, follicle-stimulating hormone, and gonadotropin-releasing hormone. This is due to GNAS1 expression in the thyroid, gonads, and pituitary gland.
Codes
ICD10CM:
E20.1 – Pseudohypoparathyroidism
SNOMEDCT:
58833000 – Pseudohypoparathyroidism type I A
E20.1 – Pseudohypoparathyroidism
SNOMEDCT:
58833000 – Pseudohypoparathyroidism type I A
Look For
Subscription Required
Diagnostic Pearls
Subscription Required
Differential Diagnosis & Pitfalls
To perform a comparison, select diagnoses from the classic differential
Subscription Required
Best Tests
Subscription Required
Management Pearls
Subscription Required
Therapy
Subscription Required
References
Subscription Required
Last Reviewed:05/07/2019
Last Updated:01/23/2022
Last Updated:01/23/2022