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

Autor:	Takaleh, Akram, Abunamous, Nasser, AlShamsi, Aisha, Alhassani, Noura, Almazrouei, Raya
Předmět:	LITERATURE reviews HYPOGONADISM FETAL growth retardation INBORN errors of metabolism KALLMANN syndrome GLYCOGEN storage disease type II
Zdroj:	JCEM Case Reports; Mar2024, Vol. 2 Issue 3, p1-5, 5p
Abstrakt:	Transaldolase deficiency is a rare autosomal recessive inborn error of carbohydrate metabolism caused by pathogenic/likely pathogenic biallelic mutations in the TALDO1 gene. This disorder is characterized by multisystem involvement with variable phenotypes, including intrauterine growth restriction; dysmorphic features; abnormal skin; hepatosplenomegaly; cytopenia; and cardiac, renal, and endocrine abnormalities. Herein, we present two Emirati patients with hypergonadotropic hypogonadism due to transaldolase deficiency and variable phenotypes of systemic involvement. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
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