Hypergonadotrophic hypogonadism in a patient with transaldolase deficiency: novel mutation in the pentose phosphate pathway.
Hormones (Athens)
; 20(3): 581-585, 2021 Sep.
Article
in En
| MEDLINE
| ID: mdl-33159679
ABSTRACT
BACKGROUND:
Transaldolase (TALDO) deficiency (OMIM #606003) is a rare autosomal recessive multi-systemic disorder of carbohydrate metabolism. It has a vast phenotypic spectrum ranging from neonatal liver failure to slowly progressive liver cirrhosis and is characterized by intrauterine growth restriction, hepatosplenomegaly, bicytopenia, nephrolithiasis, and congenital heart disease. METHODS ANDRESULTS:
We report a patient with a late-onset form of TALDO deficiency characterized by hypergonadotropic hypogonadism and slightly elevated levels of alpha-fetoprotein (AFP). A novel TALDO1 mutation was detected through the application of reverse genetics with the use of clinical exome sequencing (CES).CONCLUSION:
This report provides further evidence that reverse genetics is a useful approach in patients who do not manifest the hallmark features of known and recognizable syndromes. TALDO deficiency should be considered in the differential diagnosis of unexplained elevated AFP levels and hypergonadotropic hypogonadism with microlithiasis.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Pentose Phosphate Pathway
/
Transaldolase
/
Carbohydrate Metabolism, Inborn Errors
/
Hypogonadism
Type of study:
Diagnostic_studies
Limits:
Adolescent
/
Humans
/
Male
Language:
En
Journal:
Hormones (Athens)
Journal subject:
ENDOCRINOLOGIA
Year:
2021
Document type:
Article
Affiliation country:
Turkey
Publication country:
CH
/
SUIZA
/
SUÍÇA
/
SWITZERLAND