A case of 17 alpha-hydroxylase deficiency / 대한생식의학회지
Clinical and Experimental Reproductive Medicine
; : 72-76, 2015.
Article
em En
| WPRIM
| ID: wpr-34094
Biblioteca responsável:
WPRO
ABSTRACT
17alpha-hydroxylase and 17,20-lyase are enzymes encoded by the CYP17A1 gene and are required for the synthesis of sex steroids and cortisol. In 17alpha-hydroxylase deficiency, there are low blood levels of estrogens, androgens, and cortisol, and resultant compensatory increases in adrenocorticotrophic hormone that stimulate the production of 11-deoxycorticosterone and corticosterone. In turn, the excessive levels of mineralocorticoids lead to volume expansion and hypertension. Females with 17alpha-hydroxylase deficiency are characterized by primary amenorrhea and delayed puberty, with accompanying hypertension. Affected males usually have female external genitalia, a blind vagina, and intra-abdominal testes. The treatment of this disorder is centered on glucocorticoid and sex steroid replacement. In patients with 17alpha-hydroxylase deficiency who are being raised as females, estrogen should be supplemented, while genetically female patients with a uterus should also receive progesterone supplementation. Here, we report a case of a 21-year-old female with 17alpha-hydroxylase deficiency who had received inadequate treatment for a prolonged period of time. We also include a brief review of the recent literature on this disorder.
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Texto completo:
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Índice:
WPRIM
Assunto principal:
Progesterona
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Puberdade Tardia
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Esteroides
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Testículo
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Útero
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Vagina
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Corticosterona
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Hidrocortisona
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Esteroide 17-alfa-Hidroxilase
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Hormônio Adrenocorticotrópico
Limite:
Female
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Humans
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Male
Idioma:
En
Revista:
Clinical and Experimental Reproductive Medicine
Ano de publicação:
2015
Tipo de documento:
Article