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PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS

MedGen UID:
864577
•Concept ID:
C4016140
•
Finding
OMIM®: 139320

Recent clinical studies

Etiology

Syndromic Disorders Caused by Disturbed Human Imprinting.
Carli D, Riberi E, Ferrero GB, Mussa A
J Clin Res Pediatr Endocrinol 2020 Mar 19;12(1):1-16. Epub 2019 Apr 10 doi: 10.4274/jcrpe.galenos.2019.2018.0249. PMID: 30968677Free PMC Article
Gonadotropin-independent precocious puberty.
Holland FJ
Endocrinol Metab Clin North Am 1991 Mar;20(1):191-210. PMID: 1903104
Growth and development in a girl with pseudohypoparathyroidism and hypothyroidism. A longitudinal study.
de Wijn EM, Steendijk R
Acta Paediatr Scand 1982 Jul;71(4):657-60. doi: 10.1111/j.1651-2227.1982.tb09492.x. PMID: 7136683

Diagnosis

Central Precocious Puberty in a Boy with Pseudohypoparathyroidism Type 1A due to a Novel GNAS Variant, with Congenital Hypothyroidism as the First Manifestation.
Wankanit S, Mahachoklertwattana P, Tim-Aroon T, Sorapipatcharoen K, Poomthavorn P
J Clin Res Pediatr Endocrinol 2022 Dec 1;14(4):485-489. Epub 2021 Jul 30 doi: 10.4274/jcrpe.galenos.2021.2021.0141. PMID: 34327978Free PMC Article
Syndromic Disorders Caused by Disturbed Human Imprinting.
Carli D, Riberi E, Ferrero GB, Mussa A
J Clin Res Pediatr Endocrinol 2020 Mar 19;12(1):1-16. Epub 2019 Apr 10 doi: 10.4274/jcrpe.galenos.2019.2018.0249. PMID: 30968677Free PMC Article
Gonadotropin-independent precocious puberty.
Holland FJ
Endocrinol Metab Clin North Am 1991 Mar;20(1):191-210. PMID: 1903104
Imaging paediatric endocrine disorders.
Cooke KM, Cowell C, Lam AH, De Silva M, Howman-Giles R, Donaghue K
Baillieres Clin Endocrinol Metab 1989 May;3(1):191-224. doi: 10.1016/s0950-351x(89)80027-8. PMID: 2679523

Therapy

Gonadotropin-dependent sexual precocity in a boy affected by pseudohypoparathyroidism.
Rossodivita A, Miceli Sopo S, D'Alessio E, Valentini P
J Pediatr Endocrinol Metab 2000 Jul;13 Suppl 1:845-7. doi: 10.1515/jpem.2000.13.s1.845. PMID: 10969932

Clinical prediction guides

Central Precocious Puberty in a Boy with Pseudohypoparathyroidism Type 1A due to a Novel GNAS Variant, with Congenital Hypothyroidism as the First Manifestation.
Wankanit S, Mahachoklertwattana P, Tim-Aroon T, Sorapipatcharoen K, Poomthavorn P
J Clin Res Pediatr Endocrinol 2022 Dec 1;14(4):485-489. Epub 2021 Jul 30 doi: 10.4274/jcrpe.galenos.2021.2021.0141. PMID: 34327978Free PMC Article

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