Central Precocious Puberty in a Boy with Pseudohypoparathyroidism Type 1A due to a Novel GNAS Variant, with Congenital Hypothyroidism as the First Manifestation

• Main Authors: Somboon Wankanit (Author), Pat Mahachoklertwattana (Author), Thipwimol Tim-Aroon (Author), Kinnaree Sorapipatcharoen (Author), Preamrudee Poomthavorn (Author)
• Format: Book
• Published: Galenos Yayincilik, 2022-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Pseudohypoparathyroidism (PHP) type 1A (PHP1A) is a disorder of multiple hormone resistance, mainly parathyroid hormone. It is associated with Albright hereditary osteodystrophy phenotypes. Patients with PHP1A may initially present with hypothyroidism during infancy and later develop typical PHP1A c...