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May 1992, Vol 146, No. 5 >
Article | May 1992

Male Pseudohermaphroditism Resulting From 17α-Monooxygenase (P-450C17) Deficiency in Two Unrelated Guamanians FREE

Kenneth Lee Jones, MD; Gary R. Freidenberg, MD; Richard Buchta, MD; Ajanta Derenoncourt, MD
[+] Author Affiliations

Accepted for publication November 13, 1991.

Reprint requests to Department of Pediatrics, University of California, San Diego School of Medicine, M-009-C, La Jolla, CA 92093 (Dr Jones).


Am J Dis Child. 1992;146(5):592-595. doi:10.1001/archpedi.1992.02160170072018.
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References
Comments

• Objective.  —To report the cases of and to describe two unrelated Guamanian patients with an unusual form of congenital adrenal hyperplasia resulting from 17α-monooxygenase deficiency (P-450C17).

Design.  —Patient series.

Setting.  —Referral center.

Patients.  —Two phenotypic females of Guamanian descent, unrelated, and referred for evaluation of hypertension and delayed sexual development.

Interventions.  —Diagnosis by measurement of specific adrenocortical precursors and initiation of therapy with dexamethasone. Documentation of response by decrease in circulating concentrations of metabolites and decrease in blood pressure.

Conclusions.  —The finding of a rare autosomal recessive disorder in two unrelated persons from a small genetic pool in Guam suggests that this may result from the same molecular defect and may be present in this population at an unexpectedly high incidence. Lack of suspicion frequently leads to unnecessary delay in diagnosis of this condition.(AJDC. 1992;146:592-595)

REFERENCES

1 +
Biglieri EG, Herron MA, Brust N.  17α-Hydroxylase deficiency in men . J Clin Invest . 1990;;45:1946-1954.
2 +
Yanase T, Simpson ER, Waterman MR.  17α-Hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition . Endocr Rev . 1991;;12:91-108.
3 +
Kater CE, Biglieri EG, Brust N, Chang B, Hirai J.  The unique patterns of plasma aldosterone and 18-hydroxycorticosterone concentrations in the 17α-hydroxylase deficiency syndrome . J Clin Endocrinol Metab . 1982;;55:295-302.
4 +
D'Armiento M, Reda C, Kater C, Shackleton CHL, Biglieri EG.  17α-Hydroxylase deficiency: mineralocorticoid hormone profiles in an affected family . J Clin Endocrinol Metab . 1983;;56:697-701.
5 +
Mantero F, Scaroni C.  Enzymatic defects of steroidogenesis: 17α-hydroxylase . Pediatr Adolesc Endocr . 1984;;13:83-94.
6 +
Zuber MX, Simpson ER, Waterman MR.  Expression of bovine 17α-hydroxylase cytochrome P450 cDNA in nonsteroidogenic (Cosi) cells . Science . 1986;;234:1258-1261.
7 +
Morimoto I, Maeda R, Izumi M, Ishimaru T, Nishimori I, Nagataki S.  An autopsy case of 17α-hydroxylase deficiency with malignant hypertension . J Clin Endocrinol Metab . 1983;;56:915-919.
8 +
Waseda N, Hino T, Ishihara T, Ikekubo K, Mori T.  A case of 17α-hydroxylase deficiency with normal blood pressure . Clin Endocrinol . 1986;;34( (suppl) ):264-266.
9 +
Nakasono M, Baba T, Kidaoka M, et al.  A case of 17α-hydroxylase deficiency, with clinical study in 27 cases reported in Japan . Clin Endocrinol . 1986;;34:1027-1033.
10 +
Yazaki K, Kuribayashi T, Yamamura Y, Kurihara T, Araki S.  Hypokalemic myopathy associated with 17α-hydroxylase deficiency: a case report . Neurology . 1982;;32:94-97.
11 +
Biglieri EG.  17α-Hydroxylase deficiency: implications on steroidogenesis . In: Biglieri EG, Melby JC, eds. Endocrine Hypertension . New York, NY: Raven Press; 1990;:125-136.
12 +
Green OC, Cleveland WW, Wilkins L.  Triamcinolone therapy in the adrenogenital syndrome . Pediatrics . 1961;;27:292-299.
13 +
Laron Z, Pertzelan A.  The comparative effect of 6α-fluoroprednisolone, 6α-methylprednisolone, and hydrocortisone on linear growth of children with congenital adrenal virilism and Addison's disease . J Pediatr . 1968;;73:774-782.
14 +
Aceto T Jr, Blizzard RM, Migeon CJ.  Adrenocortical insufficiency in infants and children . Pediatr Clin North Am . 1962;;9:177-199.
15 +
Wood JW.  Oral contraceptives and hypertension . Hypertension . 1988;;11:11-15.
16 +
New Ml.  Male pseudohermaphroditism due to 17α-hydroxylase deficiency . J Clin Invest . 1970;;49:1930-1941.
17 +
Rabinovici J, Blankstein J, Goldman B, et al.  In vitro fertilization and primary embryonic cleavage are possible in 17α-hydroxylase deficiency despite extremely low intrafollicular 17β-estradiol . J Clin Endocrinol Metab . 1989;;68:693-697.
18 +
Taura K, Tashiro T, Fujimatsu S, et al.  A case of 17α-hydroxylase deficiency with male pseudohermaphroditism . Endocrinol Jpn . 1980;;56:843-854.
19 +
Kagimoto M, Winter JSD, Kagimoto K, Simpson ER, Waterman MR.  Structural characterization of normal and mutant human steroid 17α-hydroxylase genes: molecular basis of one example of combined 17αhydroxylase/17,20-lyase deficiency . Mol Endocrinol . 1988;;2:564-570.
20 +
Kagimoto K, Waterman MR, Kagimoto M, Ferreira P, Simpson ER, Winter JSD.  Identification of a common molecular basis for combined 17α-hydroxylase/17,20-lyase deficiency in two Mennonite families . Hum Genet . 1989;;82:285-286.
21 +
Yanase T, Kagimoto M, Matsui N, Simpson ER, Waterman MR.  Combined 17αhydroxylase/17,20-lyase deficiency due to a stop codon in the N-terminal region of 17α-hydroxylase cytochrome P450 . Mol Cell Endocrinol . 1988;;59:249-253.
22 +
Yanase T, Kagimoto M, Suzuki S, Hashiba K, Simpson ER, Waterman MR.  Deletion of a phenylalanine in the N-terminal region of human cytochrome P450C17α results in partial combined 17α-hydroxylase/17,20-lyase deficiency . J Biol Chem . 1989;;264:18076-18082.
23 +
Yanase T, Sanders D, Shibata A, Matsui N, Simpson ER, Waterman MR.  Combined 17α-hydroxylase/17,20-lyase deficiency due to a 7 base pair duplication in the N-terminal region of the cytochrome P45017α (CYP17) gene . J Clin Endocrinol Metab . 1990;;70:1325-1329.
24 +
Miura K, Yamakita N, Murase H, et al.  Possible hyperaldosteronism in 17α-hydroxylase deficiency in Japan: comparison with dexamethasone-suppressible hyperaldosteronism . In: Takeda R, Miyamori I, eds: Controversies in Disorders of Adrenal Hormones . Amsterdam, the Netherlands: Elsevier Science Publishers; 1988;:169-180.
25 +
Lin D, Harikrishna JA, Moore CCD, Jones KL, Miller WL.  Missense mutation Ser106>Pro causes 17α-hydroxylase deficiency: genetic diagnosis and biochemical analysis . J Biol Chem . 1991;;266:15992-15998.

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References

1 +
Biglieri EG, Herron MA, Brust N.  17α-Hydroxylase deficiency in men . J Clin Invest . 1990;;45:1946-1954.
2 +
Yanase T, Simpson ER, Waterman MR.  17α-Hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition . Endocr Rev . 1991;;12:91-108.
3 +
Kater CE, Biglieri EG, Brust N, Chang B, Hirai J.  The unique patterns of plasma aldosterone and 18-hydroxycorticosterone concentrations in the 17α-hydroxylase deficiency syndrome . J Clin Endocrinol Metab . 1982;;55:295-302.
4 +
D'Armiento M, Reda C, Kater C, Shackleton CHL, Biglieri EG.  17α-Hydroxylase deficiency: mineralocorticoid hormone profiles in an affected family . J Clin Endocrinol Metab . 1983;;56:697-701.
5 +
Mantero F, Scaroni C.  Enzymatic defects of steroidogenesis: 17α-hydroxylase . Pediatr Adolesc Endocr . 1984;;13:83-94.
6 +
Zuber MX, Simpson ER, Waterman MR.  Expression of bovine 17α-hydroxylase cytochrome P450 cDNA in nonsteroidogenic (Cosi) cells . Science . 1986;;234:1258-1261.
7 +
Morimoto I, Maeda R, Izumi M, Ishimaru T, Nishimori I, Nagataki S.  An autopsy case of 17α-hydroxylase deficiency with malignant hypertension . J Clin Endocrinol Metab . 1983;;56:915-919.
8 +
Waseda N, Hino T, Ishihara T, Ikekubo K, Mori T.  A case of 17α-hydroxylase deficiency with normal blood pressure . Clin Endocrinol . 1986;;34( (suppl) ):264-266.
9 +
Nakasono M, Baba T, Kidaoka M, et al.  A case of 17α-hydroxylase deficiency, with clinical study in 27 cases reported in Japan . Clin Endocrinol . 1986;;34:1027-1033.
10 +
Yazaki K, Kuribayashi T, Yamamura Y, Kurihara T, Araki S.  Hypokalemic myopathy associated with 17α-hydroxylase deficiency: a case report . Neurology . 1982;;32:94-97.
11 +
Biglieri EG.  17α-Hydroxylase deficiency: implications on steroidogenesis . In: Biglieri EG, Melby JC, eds. Endocrine Hypertension . New York, NY: Raven Press; 1990;:125-136.
12 +
Green OC, Cleveland WW, Wilkins L.  Triamcinolone therapy in the adrenogenital syndrome . Pediatrics . 1961;;27:292-299.
13 +
Laron Z, Pertzelan A.  The comparative effect of 6α-fluoroprednisolone, 6α-methylprednisolone, and hydrocortisone on linear growth of children with congenital adrenal virilism and Addison's disease . J Pediatr . 1968;;73:774-782.
14 +
Aceto T Jr, Blizzard RM, Migeon CJ.  Adrenocortical insufficiency in infants and children . Pediatr Clin North Am . 1962;;9:177-199.
15 +
Wood JW.  Oral contraceptives and hypertension . Hypertension . 1988;;11:11-15.
16 +
New Ml.  Male pseudohermaphroditism due to 17α-hydroxylase deficiency . J Clin Invest . 1970;;49:1930-1941.
17 +
Rabinovici J, Blankstein J, Goldman B, et al.  In vitro fertilization and primary embryonic cleavage are possible in 17α-hydroxylase deficiency despite extremely low intrafollicular 17β-estradiol . J Clin Endocrinol Metab . 1989;;68:693-697.
18 +
Taura K, Tashiro T, Fujimatsu S, et al.  A case of 17α-hydroxylase deficiency with male pseudohermaphroditism . Endocrinol Jpn . 1980;;56:843-854.
19 +
Kagimoto M, Winter JSD, Kagimoto K, Simpson ER, Waterman MR.  Structural characterization of normal and mutant human steroid 17α-hydroxylase genes: molecular basis of one example of combined 17αhydroxylase/17,20-lyase deficiency . Mol Endocrinol . 1988;;2:564-570.
20 +
Kagimoto K, Waterman MR, Kagimoto M, Ferreira P, Simpson ER, Winter JSD.  Identification of a common molecular basis for combined 17α-hydroxylase/17,20-lyase deficiency in two Mennonite families . Hum Genet . 1989;;82:285-286.
21 +
Yanase T, Kagimoto M, Matsui N, Simpson ER, Waterman MR.  Combined 17αhydroxylase/17,20-lyase deficiency due to a stop codon in the N-terminal region of 17α-hydroxylase cytochrome P450 . Mol Cell Endocrinol . 1988;;59:249-253.
22 +
Yanase T, Kagimoto M, Suzuki S, Hashiba K, Simpson ER, Waterman MR.  Deletion of a phenylalanine in the N-terminal region of human cytochrome P450C17α results in partial combined 17α-hydroxylase/17,20-lyase deficiency . J Biol Chem . 1989;;264:18076-18082.
23 +
Yanase T, Sanders D, Shibata A, Matsui N, Simpson ER, Waterman MR.  Combined 17α-hydroxylase/17,20-lyase deficiency due to a 7 base pair duplication in the N-terminal region of the cytochrome P45017α (CYP17) gene . J Clin Endocrinol Metab . 1990;;70:1325-1329.
24 +
Miura K, Yamakita N, Murase H, et al.  Possible hyperaldosteronism in 17α-hydroxylase deficiency in Japan: comparison with dexamethasone-suppressible hyperaldosteronism . In: Takeda R, Miyamori I, eds: Controversies in Disorders of Adrenal Hormones . Amsterdam, the Netherlands: Elsevier Science Publishers; 1988;:169-180.
25 +
Lin D, Harikrishna JA, Moore CCD, Jones KL, Miller WL.  Missense mutation Ser106>Pro causes 17α-hydroxylase deficiency: genetic diagnosis and biochemical analysis . J Biol Chem . 1991;;266:15992-15998.

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