title: [Congenital adrenal hypoplasia as the first manifestation of a contiguous deletion of genes in Xp21].
authors.forename: Emilio
authors.initials: E
authors.lastname: García García
authors.forename: Antonio Jesús
authors.initials: AJ
authors.lastname: Martínez Ortega
authors.forename: Raquel
authors.initials: R
authors.lastname: Fernández García
authors.forename: Marcos
authors.initials: M
authors.lastname: Madruga Garrido
mesh_terms: D000305:Adrenal Cortex Hormones / Q000172:deficiency; D000312:Adrenal Hyperplasia, Congenital / Q000097:blood / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D000309:Adrenal Insufficiency; D002239:Carbohydrate Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D002872:Chromosome Deletion; D041321:Chromosomes, Human, X / Q000235:genetics* / Q000648:ultrastructure; D052283:Creatine Kinase, MM Form / Q000097:blood; D057137:DAX-1 Orphan Nuclear Receptor / Q000172:deficiency / Q000235:genetics; D016189:Dystrophin / Q000172:deficiency / Q000235:genetics; D005260:Female; D005438:Fludrocortisone / Q000627:therapeutic use; D050172:Genes, X-Linked; D005817:Genetic Counseling; D040181:Genetic Diseases, X-Linked / Q000097:blood / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D005991:Glycerol Kinase / Q000097:blood / Q000172:deficiency* / Q000235:genetics; D012739:Gonadal Steroid Hormones / Q000172:deficiency; D006579:Heterozygote; D006801:Humans; D006854:Hydrocortisone / Q000627:therapeutic use; D015228:Hypertriglyceridemia / Q000235:genetics; D000075262:Hypoadrenocorticism, Familial; D007231:Infant, Newborn; D053577:Interleukin-1 Receptor Accessory Protein / Q000172:deficiency / Q000235:genetics; D008297:Male; D038901:X-Linked Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D020388:Muscular Dystrophy, Duchenne / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D017384:Sequence Deletion; D013577:Syndrome
chemical_list: D000305:Adrenal Cortex Hormones; D057137:DAX-1 Orphan Nuclear Receptor; C484258:DMD protein, human; D016189:Dystrophin; D012739:Gonadal Steroid Hormones; C407643:IL1RAPL1 protein, human; D053577:Interleukin-1 Receptor Accessory Protein; C539965:NR0B1 protein, human; D005991:Glycerol Kinase; D052283:Creatine Kinase, MM Form; D005438:Fludrocortisone; D006854:Hydrocortisone