[Congenital adrenal hypoplasia as the first manifestation of a contiguous deletion of genes in Xp21]

MeSH terms

• Adrenal Cortex Hormones / deficiency
• Adrenal Hyperplasia, Congenital / blood
• Adrenal Hyperplasia, Congenital / diagnosis
• Adrenal Hyperplasia, Congenital / drug therapy
• Adrenal Hyperplasia, Congenital / genetics*
• Adrenal Insufficiency
• Carbohydrate Metabolism, Inborn Errors / blood
• Carbohydrate Metabolism, Inborn Errors / diagnosis
• Carbohydrate Metabolism, Inborn Errors / genetics*
• Chromosome Deletion*
• Chromosomes, Human, X / genetics*
• Chromosomes, Human, X / ultrastructure
• Creatine Kinase, MM Form / blood
• DAX-1 Orphan Nuclear Receptor / deficiency
• DAX-1 Orphan Nuclear Receptor / genetics
• Dystrophin / deficiency
• Dystrophin / genetics
• Female
• Fludrocortisone / therapeutic use
• Genes, X-Linked*
• Genetic Counseling
• Genetic Diseases, X-Linked / blood
• Genetic Diseases, X-Linked / diagnosis
• Genetic Diseases, X-Linked / drug therapy
• Genetic Diseases, X-Linked / genetics*
• Glycerol Kinase / blood
• Glycerol Kinase / deficiency*
• Glycerol Kinase / genetics
• Gonadal Steroid Hormones / deficiency
• Heterozygote
• Humans
• Hydrocortisone / therapeutic use
• Hypertriglyceridemia / genetics
• Hypoadrenocorticism, Familial
• Infant, Newborn
• Interleukin-1 Receptor Accessory Protein / deficiency
• Interleukin-1 Receptor Accessory Protein / genetics
• Male
• Mental Retardation, X-Linked / diagnosis
• Mental Retardation, X-Linked / genetics*
• Muscular Dystrophy, Duchenne / blood
• Muscular Dystrophy, Duchenne / diagnosis
• Muscular Dystrophy, Duchenne / genetics*
• Sequence Deletion*
• Syndrome