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December 1970, Vol 120, No. 6 >
Article | December 1970

Sex Chromosome Mosaicism in Male Pseudohermaphrodism FREE

Pierre E. Ferrier, MD; Simone A. Ferrier, MD; Vincent C. Kelley, MD, PhD
[+] Author Affiliations

Received for publication June 11, 1969.

Reprint requests to the Clinique Universitaire de Pediatric, 1211 Geneva 4. (Dr. Ferrier).


Am J Dis Child. 1970;120(6):566-577. doi:10.1001/archpedi.1970.02100110114019.
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References
Comments

Cytogenetic studies in eight patients with male pseudohermaphrodism, not of the testicular feminization type, are reported. Sex-Chromosome mosaicism was observed in six of the eight patients. XO/XY mosaicism was found to persist in one of the patients over an observation period of eight years. In general, the presence of XO cells affected the physical characteristics of the patients, particularly longitudinal growth. Three of the patients attained pubertal age and virilized; however, all had evidence of partial testicular failure. The brother of one of the two patients without mosaicism (XY) had a severe degree of hypospadias, suggesting a familial tendency toward abnormal sexual differentiation in the males.

REFERENCES

1 +
Jost A:  Problems of fetal endocrinology: the gonadal and hypophyseal hormones . Recent Progr Hormone Res 8:379-418,1953;.
2 +
Ferrier PE, Kelley VC:  Influence of the Y chromosome on gonadal differentiation: Asymmetrical gonads in an XO/XY mosaic . J Med Genet 4:288-294, 1967;.
3 +
Ferrier P, Gartler SM, Waxman SH, et al:  Abnormal sexual development associated with sex chromosome mosaicism: Report of three cases . Pediatrics 29:703-713, 1962;.
4 +
Ferrier PE, Ferrier SA, Schärer KO, et al:  Disturbed gonadal differentiation in a child with XO/XY/XYY mosaicism: Relationship with gonadoblastoma . Helv Paediat Acta 22:479-490, 1967;.
5 +
Ferrier PE, Ferrier SA, Bill AH:  A male pseudohermaphrodite with a dicentric Y chromosome: Autoradiography study . Humangenetik 6:131-141, 1968;.
6 +
Vickers VS, Stuart HC:  Anthropometry in the pediatrician's office: Norms for selected body measurements on studies of children of North European stock . J Pediat 22:155, 1943;.
7 +
Greulich WW, Pyle SI: Radiographic Atlas of Skeletal Development of the Hand and the Wrist , ed 2. Stanford Calif, Stanford University Press, 1959;.
8 +
Wilkins L: The Diagnosis and Treatment of Endocrine Disorders in Childhood and Adolescence , ed 3. Springfield Ill, Charles C Thomas Publisher, 1965;.
9 +
Moorhead PS, Nowell PC, Mellman WJ, et al:  Chromosome preparations of leukocytes cultured from human peripheral blood . Exp Cell Res 20:613-616,1960;.
10 +
Harnden DG, Brunton S:  The skin culture technique , in Yunis JJ (ed): Human Chromosome Methodology . New York, Academic Press Inc, 1965;, p 57.
11 +
Ferrier PE:  Stability of the sex chromosome mosaicism in man . Amer J Hum Genet 18:614-615, 1966;.
12 +
Ferrier PE, Ferrier SA, Schärer KO, et al:  Multiple chromosome aberrations: XO/XY/XYY mosaicism and a translocation in the same family . Helv Paediat Acta 22:516-528, 1967;.
13 +
Federman DD: Abnormal Sexual Development: A Genetic and Endocrine Approach to Differential Diagnosis . Philadelphia, WB Saunders Co, 1967;.
14 +
Jones HW, Scott WW: Hermaphroditism, Genital Anomalies and Related Endocrine Disorders . Baltimore, Williams & Wilkins Co, 1958;.
15 +
Bardin CW, Allison JE, Stanley AJ, et al:  Secretion of testosterone by the pseudohermaphrodite rat . Endocrinology 84:435-436, 1969;.
16 +
Morris JM, Scully RE: Endocrine Pathology of the Ovary . St. Louis, CV Mosby Co, 1958;.
17 +
Siebenmann RE:  Pseudohermaphroditismus masculinus mit Gonadoblastomeine besondere Intersexform . Path Microbiol 24:233-238, 1961;.
18 +
Sohval AR:  "Mixed" gonadal dysgenesis: A variety of hermaphroditism . Amer J Hum Genet 15:155-158, 1963;.
19 +
Jost A:  Embryonic sexual differentiation (morphology, physiology, abnormalities) , in Jones HW, Scott WW(eds): Hermaphroditism, Genital Anomalies and Related Endocrine Disorders . Baltimore, Williams & Wilkins Co, 1958;.
20 +
Alexander DS, Ferguson-Smith MA:  Chromosomal studies in some variants of male pseudohermaphroditism . Pediatrics 28:758-763,1961;.
21 +
Jones HH, Zourlas PA:  Clinical, histologic, and cytogenetic findings in male hermaphroditism . Obstet Gynec 25:597-606, 1965;.
22 +
Morishima A, Grumbach MM:  The interrelationship of sex chromosome constitution and phenotype in the syndrome of gonad dysgenesis and its variants . Ann NY Acad Sci 155:695-715, 1968;.
23 +
Zourlas PA, Jones HW:  Clinical, histologic, and cytogenetic findings in male hermaphroditism: III. Male hermaphrodites with asymmetrical gonadal differentiation (mixed gonadal dysgenesis) . Obstet Gynec 26:48-58,1965;.
24 +
Josso N, de Grouchy J, Nezelof C, et al:  Mixed gonadal dysgenesis: Two additional pediatric cases . Amer J Dis Child 112:531-535, 1966;.
25 +
Bitan A, de Grouchy J, Jolly G, et al:  Dysgénésie gonadique mixte (ou differenciation gonadique asymétrique) . Ann Pediat 44:88-97, 1968;.
26 +
Böök JA, Atkins L, Santesson B:  Some new data on autosomal aberrations in man . Path Biol 11:1159-1162, 1963;.
27 +
La Marche PH, Heisler AB, Kronemer NS:  Disappearing mosaicism: Suggested mechanism is growth advantage of normal over abnormal cell population . Rhode Island Med J 50:184-189,1967;.
28 +
Taylor AI:  Cell selection in vivo in normal/G trisomic mosaics . Nature 219:1028-1030,1968;.
29 +
Neu RL, Bargman GJ, Gardner LI:  Disappearance of a 47, XXC + leukocyte cell line in an infant who had previously exhibited 46,XX/47,XX,C + mosaicism . Pediatrics 43:624-626,1969;.
30 +
Reitalu J:  The occurrence of 48 chromosome cells in a patient with Klinefleter's syndrome over a six-years period . Hereditas 58:63-72, 1967;.
31 +
Jackson WPU, Hoffman M, Makda H:  The 45,XO/46,XY mosaic intersex syndrome . J Med Genet 3:23-32,1966;.
32 +
Job JC, Canlorbe P, de Grouchy J, et al:  Mosaïques cellulaires XO/XY . Arch Franc Pediat 23:297-312,1966;.
33 +
Willemse CH, van Brink JM, Los PL:  XY/XO mosaicism . Lancet 1:488-489, 1962;.
34 +
Mellman WJ, Klevit HD, Yakovac WC, et al:  XO/XY chromosome mosaicism . J Clin Endocr 23:1090-1095, 1963;.
35 +
Turner HH, Greenblatt RB, Dominguez H:  Syndrome of gonadal dysgenesis and abdominal testis with an XO/XY chromosome mosaicism . J Clin Endocr 23:709-716, 1963;.
36 +
Boczkowski K, Teter J, Tomaszewska H, et al:  Gonadoblastoma (gonocytoma III) in a boy with XO/XY mosaicism . Acta Path Microbiol Scand 71:46-58, 1967;.
37 +
Boschetti R, Gilbertas A, Noel B, et al:  Pseudohermaphrodisme masculin et mosaïque 45,X/46,XYdic/46, XXq . Ann Genet 11:62-65,1968;.
38 +
French FS, Van Wyk JJ, Baggett B, et al:  Further evidence of a target organ defect in the syndrome of testicular feminization . J Clin Endocr 26:493-503, 1966;.
39 +
Karsznia R, Wyss RH, Heinrichs WL, et al:  Testicular feminization: An apparent enzyme defect . Gynaecologia 167:197, 1969;.
40 +
Bowen P, Lee CSN, Migeon CJ, et al:  Hereditary male pseudohermaphroditism with hypogonadism, hypospadias, and gynecomastia . Ann Intern Med 62:252-270, 1965;.
41 +
Linquette M, Fossati P, Lefebvre J, et al:  Gynécomastie familiale avec hypospadias: Syndrome de Reifenstein . Ann Endocr 28:381-390,1967;.
42 +
Philipp E, Staemmler HJ:  Geschwister und Zwillinge als Männliche Scheinzwitter mit intersexuellem äusseren Genitale . Acta Obstet Gynec Scand 38:645-662,1959;.
43 +
Bergman S, Reitalu J, Sundén B:  Male pseudohermaphroditism in two sisters . Acta Obstet Gynec Scand 42:138-150, 1963;.
44 +
Boczkowski K, Teter J:  Familial male pseudohermaphroditism . Acta Endocr 49:497-509, 1965;.
45 +
Josso N, Frézal J, Lamy M:  Aspects génétiques du pseudohermaphrodisme masculin . Ann Genet 9:175-181,1966;.
46 +
Sternberg WH, Barclay DL:  Women with male sex chromosomes: The syndromes of testicular feminization and XY gonadal dysgenesis . J Amer Med Wom Assoc 22:885-893, 1967;.
47 +
Green OC, Miller RR, Garcia O, et al:  Virilizing male pseudohermaphroditism: Association with abnormal testicular function . J Clin Endocr 29:728-737, 1969;.
48 +
De Vaal OM:  Genital intersexuality in three brothers, connected with consanguineous marriages in the three previous generations . Acta Paediat Scand 44:35-39, 1955;.
49 +
Philip J, Trolle D:  Familial male hermaphroditism with delayed and partial masculinization . Amer J Obstet Gynec 93:1076-1083, 1965;.
50 +
Barr ML, Carr DH, Plunkett ER, et al:  Male pseudohermaphroditism and pure gonadal dysgenesis in sisters . Amer J Obstet Gynec 99:1047-1055, 1967;.
51 +
Sternberg WH, Barclay DL, Kloepfer HW:  Familial XY gonadal dysgenesis . New Eng J Med 278:695-700,1968;.

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Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature

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References

1 +
Jost A:  Problems of fetal endocrinology: the gonadal and hypophyseal hormones . Recent Progr Hormone Res 8:379-418,1953;.
2 +
Ferrier PE, Kelley VC:  Influence of the Y chromosome on gonadal differentiation: Asymmetrical gonads in an XO/XY mosaic . J Med Genet 4:288-294, 1967;.
3 +
Ferrier P, Gartler SM, Waxman SH, et al:  Abnormal sexual development associated with sex chromosome mosaicism: Report of three cases . Pediatrics 29:703-713, 1962;.
4 +
Ferrier PE, Ferrier SA, Schärer KO, et al:  Disturbed gonadal differentiation in a child with XO/XY/XYY mosaicism: Relationship with gonadoblastoma . Helv Paediat Acta 22:479-490, 1967;.
5 +
Ferrier PE, Ferrier SA, Bill AH:  A male pseudohermaphrodite with a dicentric Y chromosome: Autoradiography study . Humangenetik 6:131-141, 1968;.
6 +
Vickers VS, Stuart HC:  Anthropometry in the pediatrician's office: Norms for selected body measurements on studies of children of North European stock . J Pediat 22:155, 1943;.
7 +
Greulich WW, Pyle SI: Radiographic Atlas of Skeletal Development of the Hand and the Wrist , ed 2. Stanford Calif, Stanford University Press, 1959;.
8 +
Wilkins L: The Diagnosis and Treatment of Endocrine Disorders in Childhood and Adolescence , ed 3. Springfield Ill, Charles C Thomas Publisher, 1965;.
9 +
Moorhead PS, Nowell PC, Mellman WJ, et al:  Chromosome preparations of leukocytes cultured from human peripheral blood . Exp Cell Res 20:613-616,1960;.
10 +
Harnden DG, Brunton S:  The skin culture technique , in Yunis JJ (ed): Human Chromosome Methodology . New York, Academic Press Inc, 1965;, p 57.
11 +
Ferrier PE:  Stability of the sex chromosome mosaicism in man . Amer J Hum Genet 18:614-615, 1966;.
12 +
Ferrier PE, Ferrier SA, Schärer KO, et al:  Multiple chromosome aberrations: XO/XY/XYY mosaicism and a translocation in the same family . Helv Paediat Acta 22:516-528, 1967;.
13 +
Federman DD: Abnormal Sexual Development: A Genetic and Endocrine Approach to Differential Diagnosis . Philadelphia, WB Saunders Co, 1967;.
14 +
Jones HW, Scott WW: Hermaphroditism, Genital Anomalies and Related Endocrine Disorders . Baltimore, Williams & Wilkins Co, 1958;.
15 +
Bardin CW, Allison JE, Stanley AJ, et al:  Secretion of testosterone by the pseudohermaphrodite rat . Endocrinology 84:435-436, 1969;.
16 +
Morris JM, Scully RE: Endocrine Pathology of the Ovary . St. Louis, CV Mosby Co, 1958;.
17 +
Siebenmann RE:  Pseudohermaphroditismus masculinus mit Gonadoblastomeine besondere Intersexform . Path Microbiol 24:233-238, 1961;.
18 +
Sohval AR:  "Mixed" gonadal dysgenesis: A variety of hermaphroditism . Amer J Hum Genet 15:155-158, 1963;.
19 +
Jost A:  Embryonic sexual differentiation (morphology, physiology, abnormalities) , in Jones HW, Scott WW(eds): Hermaphroditism, Genital Anomalies and Related Endocrine Disorders . Baltimore, Williams & Wilkins Co, 1958;.
20 +
Alexander DS, Ferguson-Smith MA:  Chromosomal studies in some variants of male pseudohermaphroditism . Pediatrics 28:758-763,1961;.
21 +
Jones HH, Zourlas PA:  Clinical, histologic, and cytogenetic findings in male hermaphroditism . Obstet Gynec 25:597-606, 1965;.
22 +
Morishima A, Grumbach MM:  The interrelationship of sex chromosome constitution and phenotype in the syndrome of gonad dysgenesis and its variants . Ann NY Acad Sci 155:695-715, 1968;.
23 +
Zourlas PA, Jones HW:  Clinical, histologic, and cytogenetic findings in male hermaphroditism: III. Male hermaphrodites with asymmetrical gonadal differentiation (mixed gonadal dysgenesis) . Obstet Gynec 26:48-58,1965;.
24 +
Josso N, de Grouchy J, Nezelof C, et al:  Mixed gonadal dysgenesis: Two additional pediatric cases . Amer J Dis Child 112:531-535, 1966;.
25 +
Bitan A, de Grouchy J, Jolly G, et al:  Dysgénésie gonadique mixte (ou differenciation gonadique asymétrique) . Ann Pediat 44:88-97, 1968;.
26 +
Böök JA, Atkins L, Santesson B:  Some new data on autosomal aberrations in man . Path Biol 11:1159-1162, 1963;.
27 +
La Marche PH, Heisler AB, Kronemer NS:  Disappearing mosaicism: Suggested mechanism is growth advantage of normal over abnormal cell population . Rhode Island Med J 50:184-189,1967;.
28 +
Taylor AI:  Cell selection in vivo in normal/G trisomic mosaics . Nature 219:1028-1030,1968;.
29 +
Neu RL, Bargman GJ, Gardner LI:  Disappearance of a 47, XXC + leukocyte cell line in an infant who had previously exhibited 46,XX/47,XX,C + mosaicism . Pediatrics 43:624-626,1969;.
30 +
Reitalu J:  The occurrence of 48 chromosome cells in a patient with Klinefleter's syndrome over a six-years period . Hereditas 58:63-72, 1967;.
31 +
Jackson WPU, Hoffman M, Makda H:  The 45,XO/46,XY mosaic intersex syndrome . J Med Genet 3:23-32,1966;.
32 +
Job JC, Canlorbe P, de Grouchy J, et al:  Mosaïques cellulaires XO/XY . Arch Franc Pediat 23:297-312,1966;.
33 +
Willemse CH, van Brink JM, Los PL:  XY/XO mosaicism . Lancet 1:488-489, 1962;.
34 +
Mellman WJ, Klevit HD, Yakovac WC, et al:  XO/XY chromosome mosaicism . J Clin Endocr 23:1090-1095, 1963;.
35 +
Turner HH, Greenblatt RB, Dominguez H:  Syndrome of gonadal dysgenesis and abdominal testis with an XO/XY chromosome mosaicism . J Clin Endocr 23:709-716, 1963;.
36 +
Boczkowski K, Teter J, Tomaszewska H, et al:  Gonadoblastoma (gonocytoma III) in a boy with XO/XY mosaicism . Acta Path Microbiol Scand 71:46-58, 1967;.
37 +
Boschetti R, Gilbertas A, Noel B, et al:  Pseudohermaphrodisme masculin et mosaïque 45,X/46,XYdic/46, XXq . Ann Genet 11:62-65,1968;.
38 +
French FS, Van Wyk JJ, Baggett B, et al:  Further evidence of a target organ defect in the syndrome of testicular feminization . J Clin Endocr 26:493-503, 1966;.
39 +
Karsznia R, Wyss RH, Heinrichs WL, et al:  Testicular feminization: An apparent enzyme defect . Gynaecologia 167:197, 1969;.
40 +
Bowen P, Lee CSN, Migeon CJ, et al:  Hereditary male pseudohermaphroditism with hypogonadism, hypospadias, and gynecomastia . Ann Intern Med 62:252-270, 1965;.
41 +
Linquette M, Fossati P, Lefebvre J, et al:  Gynécomastie familiale avec hypospadias: Syndrome de Reifenstein . Ann Endocr 28:381-390,1967;.
42 +
Philipp E, Staemmler HJ:  Geschwister und Zwillinge als Männliche Scheinzwitter mit intersexuellem äusseren Genitale . Acta Obstet Gynec Scand 38:645-662,1959;.
43 +
Bergman S, Reitalu J, Sundén B:  Male pseudohermaphroditism in two sisters . Acta Obstet Gynec Scand 42:138-150, 1963;.
44 +
Boczkowski K, Teter J:  Familial male pseudohermaphroditism . Acta Endocr 49:497-509, 1965;.
45 +
Josso N, Frézal J, Lamy M:  Aspects génétiques du pseudohermaphrodisme masculin . Ann Genet 9:175-181,1966;.
46 +
Sternberg WH, Barclay DL:  Women with male sex chromosomes: The syndromes of testicular feminization and XY gonadal dysgenesis . J Amer Med Wom Assoc 22:885-893, 1967;.
47 +
Green OC, Miller RR, Garcia O, et al:  Virilizing male pseudohermaphroditism: Association with abnormal testicular function . J Clin Endocr 29:728-737, 1969;.
48 +
De Vaal OM:  Genital intersexuality in three brothers, connected with consanguineous marriages in the three previous generations . Acta Paediat Scand 44:35-39, 1955;.
49 +
Philip J, Trolle D:  Familial male hermaphroditism with delayed and partial masculinization . Amer J Obstet Gynec 93:1076-1083, 1965;.
50 +
Barr ML, Carr DH, Plunkett ER, et al:  Male pseudohermaphroditism and pure gonadal dysgenesis in sisters . Amer J Obstet Gynec 99:1047-1055, 1967;.
51 +
Sternberg WH, Barclay DL, Kloepfer HW:  Familial XY gonadal dysgenesis . New Eng J Med 278:695-700,1968;.

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