Progress in diagnosis and treatment of adrenal hypoplasia congenita with hypogonadotropic hypogonadism caused by DAX-1 gene mutation / 中华内分泌代谢杂志
Chinese Journal of Endocrinology and Metabolism
;
(12): 617-620, 2016.
Artigo
em Chinês
| WPRIM
| ID: wpr-496185
ABSTRACT
[Summary] With the improvement of current medical diagnosis and treatment technology, more and more patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism have been diagnosed. DAX-1 gene mutation has been accounted for one of the most important reasons. Clinical manifestations include adrenocortical hypofunction such as loss of salt, dehydration, nausea and vomiting, as well as gonad dysplasia of male patients in puberty. The disease can be diagnosed by blood biochemical and hormonal level testings, imaging tests and gene sequencing. Patients can be treated by glucocorticoid, mineralocorticoid, and male sex hormone. The review will expand the diagnosis and treatment of adrenal hypoplasia congenita with hypogonadotropic hypogonadism caused by DAX-1 gene mutation.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Tipo de estudo:
Estudo diagnóstico
Idioma:
Chinês
Revista:
Chinese Journal of Endocrinology and Metabolism
Ano de publicação:
2016
Tipo de documento:
Artigo
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