A Novel Missense Variant in <i>LHX4</i> in Three Children with Multiple Pituitary Hormone Deficiency Belonging to Two Unrelated Families and Contribution of Additional <i>GLI2</i> and <i>IGFR1</i> Variant.

ABSTRACT:

Background

Multiple genes can disrupt hypothalamic-pituitary axis development, causing multiple pituitary hormone deficiencies (MPHD). Despite advances in next-generation sequencing (NGS) identifying over 30 key genes, 85% of cases remain unsolved, indicating complex genotype-phenotype correlations and variable inheritance patterns.

Objective

This study aimed to identify the MPHD genetics in three probands from two unrelated families.

Methods

Family A had one affected child, while Family B had two affected siblings. All probands exhibited poor growth since birth, and family B's probands were born small for gestational age. Growth hormone deficiency was confirmed in all subjects. Family B's probands responded poorly to growth hormone treatment compared to the first pat

SUBMITTER: Santoro C 

PROVIDER: S-EPMC11941417 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature