Adaptation, reliability and validity of health-related quality of life questionnaires: Disabkids chronic and specific diabetes disease in children and adolescents with diabetes mellitus type 1.

Introduction: It is recommended to periodically evaluate the health-related quality of life (HRQoL) in children and adolescents with type 1 diabetes mellitus (DM1). Despite this, no specific paediatric HRQoL instrument for DM1 has been validated in Spanish.

Objectives: Multicentre, prospective descriptive study in children and adolescents with DM1 with the aim of carrying out cross-cultural adaptation to Spanish and evaluating the reliability and validity of the DISABKIDS chronic disease and diabetes-specific HRQoL questionnaires, using reverse translation.

Variants of and May Contribute towards the Broad Phenotype Observed in 46,XY DSD Patients with Heterozygous Variants of .

Variants of are often found in individuals with 46,XY disorders of sex development (DSD) and manifest with a very broad spectrum of clinical characteristics and variable sex hormone levels. Such complex phenotypic expression can be due to the inheritance of additional genetic hits in DSD-associated genes that modify sex determination, differentiation and organ function in patients with heterozygous variants. Here we describe the clinical, biochemical and genetic features of a series of seven patients harboring monoallelic variants in the gene.

Clinical and molecular characterization of five Spanish kindreds with X-linked adrenal hypoplasia congenita: atypical findings and a novel mutation in NR0B1.

Background: X-linked adrenal hypoplasia congenita (AHC) is caused by NR0B1 (DAX1) gene mutations. Affected male children suffer from adrenal insufficiency, leading to a salt-wasting crisis in early infancy and hypogonadotropic hypogonadism in adulthood.

Objective: To characterize clinically and at the molecular level a cohort of Spanish patients with AHC.