ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume : 14 Issue : 4 Year : 2024
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Abstracting & Indexing
Turkish Society for Pediatric Endocrinology and Diabetes
Central Precocious Puberty in a Boy with Pseudohypoparathyroidism Type 1A due to a Novel <i>GNAS</i> Variant, with Congenital Hypothyroidism as the First Manifestation [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2022; 14(4): 485-489 | DOI: 10.4274/jcrpe.galenos.2021.2021.0141

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

Somboon Wankanit, Pat Mahachoklertwattana, Thipwimol Tim-Aroon, Kinnaree Sorapipatcharoen, Preamrudee Poomthavorn
Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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 characteristics during their childhood. Central precocious puberty (CPP) is extremely rare among PHP1A patients in whom gonadotropin resistance is more usual. This is a case report of a 9.5-year-old boy with congenital hypothyroidism who developed hypocalcemia secondary to PHP. He had relatively short stature with height standard deviation score of -0.9. Obesity had been noted since the age of two years. At the presentation of PHP, pubertal-sized testes of 10 mL were observed, and CPP was documented with serum testosterone concentration of 298 ng/dL (normal for Tanner stage III, 100-320), luteinizing hormone of 3.9 IU/L (normal, 0.2-5.0), and follicle stimulating hormone of 4.8 IU/L (normal, 1.2-5.8). Pituitary magnetic resonance imaging was unremarkable. Genetic analysis confirmed the diagnosis of PHP1A with a novel heterozygous missense variant of GNAS gene in exon 13, c.1103A>G (p.Asp368Gly). Awareness of PHP1A diagnosis in patients with congenital hypothyroidism and early childhood-onset obesity is important for early diagnosis. Apart from multiple hormone resistance, CPP may manifest in patients with PHP1A.

Keywords: Pseudohypoparathyroidism, precocious puberty, hypothyroidism

Somboon Wankanit, Pat Mahachoklertwattana, Thipwimol Tim-Aroon, Kinnaree Sorapipatcharoen, Preamrudee Poomthavorn. Central Precocious Puberty in a Boy with Pseudohypoparathyroidism Type 1A due to a Novel GNAS Variant, with Congenital Hypothyroidism as the First Manifestation. J Clin Res Pediatr Endocrinol. 2022; 14(4): 485-489

Corresponding Author: Preamrudee Poomthavorn, Thailand
Manuscript Language: English
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