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A case of 17 alpha-hydroxylase deficiency.

Kim SM, Rhee JH - Clin Exp Reprod Med (2015)

Bottom Line: In 17α-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.Here, we report a case of a 21-year-old female with 17α-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.

View Article: PubMed Central - PubMed

Affiliation: Saint Mary's Women's Hospital, Daegu, Korea.

ABSTRACT
17α-hydroxylase and 17,20-lyase are enzymes encoded by the CYP17A1 gene and are required for the synthesis of sex steroids and cortisol. In 17α-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 17α-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 17α-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 17α-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.

No MeSH data available.


Related in: MedlinePlus

Pathogenesis in 17 alpha-hydroxylase deficiency (17OHD). The blockage at the 17α-OH impairs cortisol and sex steroid synthesis. The low cortisol increases ACTH production. Accumulated deoxycorticosterone and corticosterone cause plasma volume expansion and hypertension, and hypokalemia, which suppress renin and aldosterone. ACTH, adrenocorticotrophic hormone; 17α-OH, 17α-hydroxylase; 3β-OH-DH, 3β-hydroxysteroid dehydrogenase; 21-OH, 21-hydroxylase; 11β-OH, 11β-hydroxylase; 17β-OH-DH, 17β-hydroxysteroid dehydrogenase; ADD, androstenedione; Testo, testosterone; Aro, aromatase; E1, estrone; E2, estradiol.
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Figure 1: Pathogenesis in 17 alpha-hydroxylase deficiency (17OHD). The blockage at the 17α-OH impairs cortisol and sex steroid synthesis. The low cortisol increases ACTH production. Accumulated deoxycorticosterone and corticosterone cause plasma volume expansion and hypertension, and hypokalemia, which suppress renin and aldosterone. ACTH, adrenocorticotrophic hormone; 17α-OH, 17α-hydroxylase; 3β-OH-DH, 3β-hydroxysteroid dehydrogenase; 21-OH, 21-hydroxylase; 11β-OH, 11β-hydroxylase; 17β-OH-DH, 17β-hydroxysteroid dehydrogenase; ADD, androstenedione; Testo, testosterone; Aro, aromatase; E1, estrone; E2, estradiol.

Mentions: 17α-hydroxylase and 17,20-lyase (P450c17) are enzymes that convert pregnenolone and progesterone to 17α-hydroxypregnenolone (17-OHPreg) and 17α-hydroxyprogesterone (17-OHP), which are precursors of sex steroids and cortisol. In cases of P450c17 deficiency, androgens, estrogens, and cortisol cannot be produced. A compensatory increase in adrenocorticotrophic hormone (ACTH), due to the failure of cortisol production, stimulates the production of 11-deoxycorticosterone and corticosterone, which have powerful mineralocorticoid activity. In turn, the excessive levels of these mineralocorticoids lead to volume expansion, hypertension, and electrolyte imbalances such as hypokalemia (Figure 1).


A case of 17 alpha-hydroxylase deficiency.

Kim SM, Rhee JH - Clin Exp Reprod Med (2015)

Pathogenesis in 17 alpha-hydroxylase deficiency (17OHD). The blockage at the 17α-OH impairs cortisol and sex steroid synthesis. The low cortisol increases ACTH production. Accumulated deoxycorticosterone and corticosterone cause plasma volume expansion and hypertension, and hypokalemia, which suppress renin and aldosterone. ACTH, adrenocorticotrophic hormone; 17α-OH, 17α-hydroxylase; 3β-OH-DH, 3β-hydroxysteroid dehydrogenase; 21-OH, 21-hydroxylase; 11β-OH, 11β-hydroxylase; 17β-OH-DH, 17β-hydroxysteroid dehydrogenase; ADD, androstenedione; Testo, testosterone; Aro, aromatase; E1, estrone; E2, estradiol.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4496435&req=5

Figure 1: Pathogenesis in 17 alpha-hydroxylase deficiency (17OHD). The blockage at the 17α-OH impairs cortisol and sex steroid synthesis. The low cortisol increases ACTH production. Accumulated deoxycorticosterone and corticosterone cause plasma volume expansion and hypertension, and hypokalemia, which suppress renin and aldosterone. ACTH, adrenocorticotrophic hormone; 17α-OH, 17α-hydroxylase; 3β-OH-DH, 3β-hydroxysteroid dehydrogenase; 21-OH, 21-hydroxylase; 11β-OH, 11β-hydroxylase; 17β-OH-DH, 17β-hydroxysteroid dehydrogenase; ADD, androstenedione; Testo, testosterone; Aro, aromatase; E1, estrone; E2, estradiol.
Mentions: 17α-hydroxylase and 17,20-lyase (P450c17) are enzymes that convert pregnenolone and progesterone to 17α-hydroxypregnenolone (17-OHPreg) and 17α-hydroxyprogesterone (17-OHP), which are precursors of sex steroids and cortisol. In cases of P450c17 deficiency, androgens, estrogens, and cortisol cannot be produced. A compensatory increase in adrenocorticotrophic hormone (ACTH), due to the failure of cortisol production, stimulates the production of 11-deoxycorticosterone and corticosterone, which have powerful mineralocorticoid activity. In turn, the excessive levels of these mineralocorticoids lead to volume expansion, hypertension, and electrolyte imbalances such as hypokalemia (Figure 1).

Bottom Line: In 17α-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.Here, we report a case of a 21-year-old female with 17α-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.

View Article: PubMed Central - PubMed

Affiliation: Saint Mary's Women's Hospital, Daegu, Korea.

ABSTRACT
17α-hydroxylase and 17,20-lyase are enzymes encoded by the CYP17A1 gene and are required for the synthesis of sex steroids and cortisol. In 17α-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 17α-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 17α-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 17α-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.

No MeSH data available.


Related in: MedlinePlus