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BMC Endocrine Disorders
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#1Hans-Michael HauH-Index: 8
#2Nora JahnH-Index: 2
Last. Robert SucherH-Index: 19
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#1Takako ShirasawaH-Index: 12
#2Hirotaka OchiaiH-Index: 12
Last. Akatsuki KokazeH-Index: 12
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#2Thida C. TanH-Index: 4
Last. Alan S. GoH-Index: 12
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Background Adrenal hypoplasia congenita (AHC) is an X-linked disorder that affects the adrenal cortex and hypothalamus-pituitary-gonadal axis (HPG), leading to primary adrenocortical insufficiency (PAI) and hypogonadotropic hypogonadism. AHC is caused by a mutation in the DAX-1 gene (NR0B1). More commonly, this disease is characterized by early-onset PAI, with symptoms in the first months of life. However, a less severe phenotype termed late-onset AHC has been described, as PAI signs and symptom...
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