Infant With Pseudohypoparathyroidism Type 1a, Misdiagnosed as Congenital Hypothyroidism.
Albright s hereditary osteodystrophy (AHO)
Congenital hypothyroidism
GNAS
Parathyroid hormone
Pseudohypoparathyroidism (PHP)
Journal
Medical archives (Sarajevo, Bosnia and Herzegovina)
ISSN: 1986-5961
Titre abrégé: Med Arch
Pays: Bosnia and Herzegovina
ID NLM: 101635337
Informations de publication
Date de publication:
Feb 2023
Feb 2023
Historique:
received:
10
12
2022
accepted:
12
02
2023
entrez:
16
3
2023
pubmed:
17
3
2023
medline:
21
3
2023
Statut:
ppublish
Résumé
Hypothyroidism is a manifestation of multi-hormonal resistance in pseudohypoparathyroidism type Ia (PHP Ia). The aim of this article was to present 9 months old male patient as case of congenital hypothyroidism. We describe a 9 months old male diagnosed with congenital hypothyroidism at age 1.5 month, who developed later (at age 5 months) cyanotic attack associated with hypocalcaemia, hyperphosphatemia, and hyperparathyroidism, patient had typical characters of AHO, so the diagnosis of Pseudohypoparathyroidism 1a associated with resistance (TSH) was established. Children diagnosed with PHP 1a should be further evaluated for associated resistance endocrinopathies. The literature on pseudohypoparathyroidism is reviewed with special emphasis on the misdiagnosis with congenital hypothyroidism.
Sections du résumé
Background
UNASSIGNED
Hypothyroidism is a manifestation of multi-hormonal resistance in pseudohypoparathyroidism type Ia (PHP Ia).
Objective
UNASSIGNED
The aim of this article was to present 9 months old male patient as case of congenital hypothyroidism.
Case report
UNASSIGNED
We describe a 9 months old male diagnosed with congenital hypothyroidism at age 1.5 month, who developed later (at age 5 months) cyanotic attack associated with hypocalcaemia, hyperphosphatemia, and hyperparathyroidism, patient had typical characters of AHO, so the diagnosis of Pseudohypoparathyroidism 1a associated with resistance (TSH) was established.
Conclusion
UNASSIGNED
Children diagnosed with PHP 1a should be further evaluated for associated resistance endocrinopathies. The literature on pseudohypoparathyroidism is reviewed with special emphasis on the misdiagnosis with congenital hypothyroidism.
Identifiants
pubmed: 36923733
doi: 10.5455/medarh.2023.77.70-73
pmc: PMC10010685
doi:
Substances chimiques
Chromogranins
0
GTP-Binding Protein alpha Subunits, Gs
EC 3.6.5.1
Types de publication
Review
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
70-73Informations de copyright
© 2023 Wessal Al Sakran, Mohammed Al-Qahtani, Mohammad Alkhalifa, Ali Alqahtani.
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