Hypergonadotropic Hypogonadism Due to Transaldolase Deficiency: Two Cases and Literature Review.

POI TALDO1 delayed puberty hypergonadotropic hypogonadism transaldolase deficiency

Journal

JCEM case reports
ISSN: 2755-1520
Titre abrégé: JCEM Case Rep
Pays: England
ID NLM: 9918609886906676

Informations de publication

Date de publication:
Mar 2024
Historique:
received: 09 12 2023
medline: 5 3 2024
pubmed: 5 3 2024
entrez: 5 3 2024
Statut: epublish

Résumé

Transaldolase deficiency is a rare autosomal recessive inborn error of carbohydrate metabolism caused by pathogenic/likely pathogenic biallelic mutations in the

Identifiants

DOI: 10.1210/jcemcr/luae028 PMID: 38440129 PMC: PMC10911397
pubmed: 38440129
doi: 10.1210/jcemcr/luae028
pii: luae028
pmc: PMC10911397
doi:

Types de publication

Case Reports

Langues

eng

Pagination

luae028

Informations de copyright

© The Author(s) 2024. Published by Oxford University Press on behalf of the Endocrine Society.

Auteurs

Akram Takaleh (A)

Department of Internal Medicine, Tawam Hospital, Al Ain, United Arab Emirates.

Nasser Abunamous (N)

Department of Internal Medicine, Tawam Hospital, Al Ain, United Arab Emirates.

Aisha AlShamsi (A)

Division of Genetics and Metabolic, Department of Paediatrics, Tawam Hospital, Al Ain, United Arab Emirates.

Noura Alhassani (N)

Division of Endocrine and Diabetes, Department of Pediatrics, Tawam Hospital.
Department of Paediatrics, College of Medicine and Health Science, United Arab Emirates University, Al Ain, United Arab Emirates.

Raya Almazrouei (R)

Division of Endocrinology, Department of Internal Medicine, Tawam Hospital, Al Ain, United Arab Emirates.
Department of Internal Medicine, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
ORCID: 0000-0003-0878-1123

Classifications MeSH