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May 1980, Vol 134, No. 5 >
Article | May 1980

Phenotypic Variation in a Family With Partial Androgen Insensitivity Syndrome FREE

Marc Maes, MD; Peter A. Lee, PhD, MD; Robert D. Jeffs, MD; Charles Sultan, MD; Claude J. Migeon, MD
[+] Author Affiliations

Accepted for publication Aug 4, 1979.

Reprint requests to Department of Pediatrics, Division of Pediatric Endocrinology, CMSC 3-110, The Johns Hopkins Hospital, 600 N Wolfe St, Baltimore, MD 21205 (Dr Lee).


Am J Dis Child. 1980;134(5):470-473. doi:10.1001/archpedi.1980.02130170020008.
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• A family with partial androgen insensitivity syndrome exhibited considerable variation in phenotypic expression of their androgen resistance. One subject died at 2½ years of age of a Wilms' tumor. In the two living members, one had a micropenis with otherwise normal genitalia, while the other had a small phallus, perineoscrotal hypospadias, bifid scrotum, and persistence of a vaginoutricular pouch. At puberty, plasma androgens and serum gonadotropins increased to normal or elevated values. However, despite adequate endogenous plasma testosterone levels and testosterone therapy, these patients showed poor virilization and were sterile. Studies of cultured sexual skin fibroblasts showed adequate 5α-reductase activity and normal receptor affinity and capacity for dihydrotestosterone. An X-linked mode of inheritance is postulated, although autosomal dominance cannot be ruled out.

(Am J Dis Child 134:470-473, 1980)

REFERENCES

1 +
Walsh PC, Madden JD, Harrod MJ, et al:  Familial incomplete male pseudohermaphroditism, type 2 . N Engl J Med 291:944-949, 1974;.
2 +
Imperato-McGinley J, Gautier T, Peterson RE:  Steroid 5α-reductase deficiency in man: An inherited form of male pseudohermaphroditism . Science 186:1213-1214, 1974;.
3 +
Keenan BS, Meyer WJ, Hadjian AJ, et al:  Syndrome of androgen resistance in man: Absence of 5α-dihydrotestosterone binding protein in skin fibroblasts . J Clin Endocrinol Metab 38:1143-1146, 1974;.
4 +
Amrhein JA, Meyer WJ, Jones HW, et al:  Androgen insensitivity in man: Evidence for genetic heterogeneity . Proc Natl Acad Sci USA 73:891-894, 1976;.
5 +
Griffin JE, Punyashthiti K, Wilson JD:  Dihydrotestosterone binding by cultured human fibroblasts: Comparison of cells from control subjects and from patients with hereditary male pseudohermaphroditism due to androgen resistance . J Clin Invest 57:1342-1351, 1976;.
6 +
Amrhein JA, Klingensmith GJ, Walsh PC, et al:  Partial androgen insensitivity: The Reifenstein syndrome revisited . N Engl J Med 297:350-356, 1977;.
7 +
Keenan BS, Kirkland JL, Kirkland RT, et al:  Male pseudohermaphroditism with partial androgen insensitivity . Pediatrics 59:224-231, 1977;.
8 +
Bowen P, Lee CSN, Migeon CJ, et al:  Hereditary male pseudohermaphroditism with hypogonadism, hypospadias, and gynecomastia (Reifenstein's syndrome) . Ann Intern Med 62:252-270, 1965;.
9 +
Wilson JD, Harrod MJ, Goldstein JL, et al:  Familial incomplete male Pseudohermaphroditism, type 1: Evidence for androgen resistance and variable clinical manifestations in a family with the Reifenstein syndrome . N Engl J Med 290:1097-1103, 1974;.
10 +
Aiman J, Griffin JE, Gazak JM, et al:  Androgen insensitivity as a cause of infertility in otherwise normal men . N Engl J Med 300:223-227, 1979;.
11 +
De Lacerda L, Kowarski AA, Johanson AL, et al:  Integrated concentration and circadian variation of plasma testosterone in normal men . J Clin Endocrinol Metab 37:366-371, 1973;.
12 +
Gutai JP, Meyer WJ, Kowarski AA, et al:  Twenty-four-hour integrated concentrations of progesterone, 17-hydroxyprogesterone, and cortisol in normal male subjects . J Clin Endocrinol Metab 44:116-120, 1977;.
13 +
Lee PA, Plotnick LP, Steele RE, et al:  Integrated concentrations of luteinizing hormone and puberty . J Clin Endocrinol Metab 43:168-172, 1976;.
14 +
Lee PA, Plotnick LP, Migeon CJ, et al:  Integrated concentrations of follicle-stimulating hormone and puberty . J Clin Endocrinol Metab 46:488-490, 1978;.
15 +
Bowen P, Lee CSN, Migeon CJ, et al:  Hereditary male pseudohermaphroditism with hypogonadism, hypospadius, and gyneiomastia (Reifenstein's syndrome) . Ann Intern Med 62:252-270, 1965;.
16 +
Raubitschek H:  Über eine bösartige nierengeschwulst bei einem kindlichen hermaphroditen . Frankfurt Z Pathol 10:206-218, 1912;.
17 +
Stump TA, Garret RA:  Bilateral Wilms' tumor in a male pseudohermaphrodite . J Urol 72:1146-1152, 1964;.
18 +
Ångström T:  Nephroblastoma in a case of agonadism . Cancer 18:857-862, 1965;.
19 +
Denys P, Malvaux P, Van Den Berghe H, et al:  Association d'un syndrome anatomo-pathologique de pseudohermaphroditisme masculin, d'une tumeur de Wilms, d'une néphropathie parenchymateuse et d'un mosaicisme XX/XY . Arch Fr Pediatr 24:729-739, 1967;.
20 +
Drash A, Sherman F, Hartmann WH, et al:  A syndrome of pseudohermaphroditism, Wilms's tumor, hypertension, and degenerative renal disease . J Pediatr 76:585-593, 1970;.
21 +
Barakat YA, Papadopoulos ZL, Chandra RS, et al:  Pseudohermaphroditism, nephron disorder, and Wilms' tumor: A unifying concept . Pediatrics 54:366-369, 1975;.
22 +
Meyer WJ, Migeon BR, Migeon CJ:  Locus on human X chromosome for dihydrotestosterone receptor and androgen insensitivity . Proc Natl Acad Sci USA 72:1469-1472, 1975;.
23 +
Lyon MF, Hawkes SG:  X-Linked gene for testicular feminization in the mouse . Nature 227:1217-1219, 1970;.
24 +
Schonfeld WA:  Primary and secondary sexual characteristics: Study of their development in males from birth through maturity, with biometric study of penis and testes . Am J Dis Child 65:535-549, 1943;.

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References

1 +
Walsh PC, Madden JD, Harrod MJ, et al:  Familial incomplete male pseudohermaphroditism, type 2 . N Engl J Med 291:944-949, 1974;.
2 +
Imperato-McGinley J, Gautier T, Peterson RE:  Steroid 5α-reductase deficiency in man: An inherited form of male pseudohermaphroditism . Science 186:1213-1214, 1974;.
3 +
Keenan BS, Meyer WJ, Hadjian AJ, et al:  Syndrome of androgen resistance in man: Absence of 5α-dihydrotestosterone binding protein in skin fibroblasts . J Clin Endocrinol Metab 38:1143-1146, 1974;.
4 +
Amrhein JA, Meyer WJ, Jones HW, et al:  Androgen insensitivity in man: Evidence for genetic heterogeneity . Proc Natl Acad Sci USA 73:891-894, 1976;.
5 +
Griffin JE, Punyashthiti K, Wilson JD:  Dihydrotestosterone binding by cultured human fibroblasts: Comparison of cells from control subjects and from patients with hereditary male pseudohermaphroditism due to androgen resistance . J Clin Invest 57:1342-1351, 1976;.
6 +
Amrhein JA, Klingensmith GJ, Walsh PC, et al:  Partial androgen insensitivity: The Reifenstein syndrome revisited . N Engl J Med 297:350-356, 1977;.
7 +
Keenan BS, Kirkland JL, Kirkland RT, et al:  Male pseudohermaphroditism with partial androgen insensitivity . Pediatrics 59:224-231, 1977;.
8 +
Bowen P, Lee CSN, Migeon CJ, et al:  Hereditary male pseudohermaphroditism with hypogonadism, hypospadias, and gynecomastia (Reifenstein's syndrome) . Ann Intern Med 62:252-270, 1965;.
9 +
Wilson JD, Harrod MJ, Goldstein JL, et al:  Familial incomplete male Pseudohermaphroditism, type 1: Evidence for androgen resistance and variable clinical manifestations in a family with the Reifenstein syndrome . N Engl J Med 290:1097-1103, 1974;.
10 +
Aiman J, Griffin JE, Gazak JM, et al:  Androgen insensitivity as a cause of infertility in otherwise normal men . N Engl J Med 300:223-227, 1979;.
11 +
De Lacerda L, Kowarski AA, Johanson AL, et al:  Integrated concentration and circadian variation of plasma testosterone in normal men . J Clin Endocrinol Metab 37:366-371, 1973;.
12 +
Gutai JP, Meyer WJ, Kowarski AA, et al:  Twenty-four-hour integrated concentrations of progesterone, 17-hydroxyprogesterone, and cortisol in normal male subjects . J Clin Endocrinol Metab 44:116-120, 1977;.
13 +
Lee PA, Plotnick LP, Steele RE, et al:  Integrated concentrations of luteinizing hormone and puberty . J Clin Endocrinol Metab 43:168-172, 1976;.
14 +
Lee PA, Plotnick LP, Migeon CJ, et al:  Integrated concentrations of follicle-stimulating hormone and puberty . J Clin Endocrinol Metab 46:488-490, 1978;.
15 +
Bowen P, Lee CSN, Migeon CJ, et al:  Hereditary male pseudohermaphroditism with hypogonadism, hypospadius, and gyneiomastia (Reifenstein's syndrome) . Ann Intern Med 62:252-270, 1965;.
16 +
Raubitschek H:  Über eine bösartige nierengeschwulst bei einem kindlichen hermaphroditen . Frankfurt Z Pathol 10:206-218, 1912;.
17 +
Stump TA, Garret RA:  Bilateral Wilms' tumor in a male pseudohermaphrodite . J Urol 72:1146-1152, 1964;.
18 +
Ångström T:  Nephroblastoma in a case of agonadism . Cancer 18:857-862, 1965;.
19 +
Denys P, Malvaux P, Van Den Berghe H, et al:  Association d'un syndrome anatomo-pathologique de pseudohermaphroditisme masculin, d'une tumeur de Wilms, d'une néphropathie parenchymateuse et d'un mosaicisme XX/XY . Arch Fr Pediatr 24:729-739, 1967;.
20 +
Drash A, Sherman F, Hartmann WH, et al:  A syndrome of pseudohermaphroditism, Wilms's tumor, hypertension, and degenerative renal disease . J Pediatr 76:585-593, 1970;.
21 +
Barakat YA, Papadopoulos ZL, Chandra RS, et al:  Pseudohermaphroditism, nephron disorder, and Wilms' tumor: A unifying concept . Pediatrics 54:366-369, 1975;.
22 +
Meyer WJ, Migeon BR, Migeon CJ:  Locus on human X chromosome for dihydrotestosterone receptor and androgen insensitivity . Proc Natl Acad Sci USA 72:1469-1472, 1975;.
23 +
Lyon MF, Hawkes SG:  X-Linked gene for testicular feminization in the mouse . Nature 227:1217-1219, 1970;.
24 +
Schonfeld WA:  Primary and secondary sexual characteristics: Study of their development in males from birth through maturity, with biometric study of penis and testes . Am J Dis Child 65:535-549, 1943;.

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