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| Central precocious puberty in a patient with X-linked adrenal hypoplasia congenita and Xp21 contiguous gene deletion syndrome | |
| Ji Won Koh, So Young Kang, Gu Hwan Kim, Han Wook Yoo, Jeesuk Yu | |
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Ann Pediatr Endocrinol Metab. 2013;18(2):90-94. Published online June 30, 2013 DOI: https://doi.org/10.6065/apem.2013.18.2.90 |
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Central precocious puberty in a patient with X-linked adrenal hypoplasia congenita and Xp21 contiguous gene deletion syndrome Annals of Pediatric Endocrinology & Metabolism. 2013;18(2):90  A Case of X-Linked Adrenal Hypoplasia Congenita, Central Precocious Puberty and Absence of the <i>DAX-1</i> Gene: Implications for Pubertal Regulation Hormone Research in Paediatrics. 2009;71(5):298-304 Gonadotropin-Dependent Precocious Puberty in a Patient with X-Linked Adrenal Hypoplasia Congenita Caused by a Novel DAX-1 Mutation Hormone Research in Paediatrics. 2010;75(2):153-156 A rare co-occurrence of duchenne muscular dystrophy, congenital adrenal hypoplasia and glycerol kinase deficiency due to Xp21 contiguous gene deletion syndrome: case report BMC Endocrine Disorders. 2021;21(1): Gonadotropin- and Adrenocorticotropic Hormone-Independent Precocious Puberty of Gonadal Origin in a Patient with Adrenal Hypoplasia Congenita Due to DAX1 Gene Mutation – A Case Report and Review of the Literature: Implications for the Pathomechanism Hormone Research in Paediatrics. 2018;91(5):336-345 Prolonged activation of the hypothalamus- pituitary-gonadal axis in a child with X-linked adrenal hypoplasia congenita Clinical Endocrinology. 2000;53(1):127-129 Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita Human Genetics. 1991;86(4): Patient with an Xp21 contiguous gene deletion syndrome in association with agenesis of the corpus callosum American Journal of Medical Genetics. 1997;70(3):216-221 Complex glycerol kinase deficiency: A contiguous gene syndrome involving the Duchenne muscular dystrophy, glycerol kinase, and adrenal hypoplasia congenita loci Mental Retardation and Developmental Disabilities Research Reviews. 1996;2(3):160-166 Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome Clinical Chemistry. 1994;40(11):2099-2103 |
