Central Precocious Puberty in a Boy with Pseudohypoparathyroidism Type 1A due to a Novel GNAS Variant, with Congenital Hypothyroidism as the First Manifestation
1
Issued Date
2022-01-01
Resource Type
ISSN
13085727
eISSN
13085735
Scopus ID
2-s2.0-85143180426
Pubmed ID
34327978
Journal Title
JCRPE Journal of Clinical Research in Pediatric Endocrinology
Volume
14
Issue
4
Start Page
485
End Page
489
Rights Holder(s)
SCOPUS
Bibliographic Citation
JCRPE Journal of Clinical Research in Pediatric Endocrinology Vol.14 No.4 (2022) , 485-489
Suggested Citation
Wankanit S. Central Precocious Puberty in a Boy with Pseudohypoparathyroidism Type 1A due to a Novel GNAS Variant, with Congenital Hypothyroidism as the First Manifestation. JCRPE Journal of Clinical Research in Pediatric Endocrinology Vol.14 No.4 (2022) , 485-489. 489. doi:10.4274/jcrpe.galenos.2021.2021.0141 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/87400
Title
Central Precocious Puberty in a Boy with Pseudohypoparathyroidism Type 1A due to a Novel GNAS Variant, with Congenital Hypothyroidism as the First Manifestation
Author(s)
Author's Affiliation
Other Contributor(s)
Abstract
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.