Abstract
Genital ambiguity in the newborn is a true medical emergency. Life-threatening crises may occur if a correct diagnosis is not made. The emotional well-being of the family and the long-term psychosocial development of the infant are at stake. The medical, psychologic, and social implications surrounding the delivery of the infant with genital ambiguity make expert advice imperative for the ongoing care of the child and family.
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References
Gulyos BJ, Hodgen GD, Tullner WW, Ross GT: Effects of fetal or maternal hypophysec-tomy on endocrine organs and body weight in infant rhesus monkeys with particular emphasis on oogenesis. Biol Reprod 16: 216–227, 1977
Muller U: Immunological and functional aspects of H-Y antigen. Hum Genet 58: 29–33, 1981
Wachtel SS: H-Y Antigen in the Biology of Sex Determination. New York, Grune Sc Stratton, 1983
Wolf U: Genetic aspects of H-Y antigen. Hum Genet 58: 25–28, 1981
George FW, Wilson JD: Endocrine differentiation of the foetal rabbit ovary in culture. Nature 283: 861–863, 1980
Jost A: Recherches sur la différenciation sexuelle de l’embryon de lapin. III. Role des gonades foetales dans la différenciation sexuelle somatique. Arch Anat Micr Morphol Exp 36: 271, 1947
Jirasek JE: Principles of reproductive embryology. IV. Development of the ovary. In Simpson JL (ed): Disorders of Sexual Differentiation. New York, Academic Press, 1976, pp 75–92
Channing CP, Anderson LD, Hoover DJ, Kolena J, Osteen KG, Pomerantz SH, Tonabe K: The role of nonsteroidal regulators in control of oocyte and follicular maturation. Ree Progr Horm Res 38: 331–408, 1982
Reindollar RH, Byrd JR, Hahn DH, Haseltine FP, McDonough PG: Monozygotic isokaryotic 45,X/46,XY twins discordant for phenotypic sex. In press
Gantt PA, Byrd JR, Greenblatt RB, McDonough PG: A clinical and cytogenetic study of 15 patients with 45,X/46,XY gonadal dysgenesis. Fertil Steril 34: 216–221, 1980
Tho PT, McDonough PG: Gonadal dysgenesis and its variants. Pediatr Clin North Am 28: 309–329, 1981
Simpson JL: Gonadal dysgenesis associated with 46,XX or 46,XY chromosomal complements. In Sciarra JJ (ed): Gynecology and Obstetrics, Vol. 5. Hagerstown, MD, Harper Sc Row, 1981
Espiner EA, Veale AM, Sonds, VE, Fitzgerald PH: Familial syndrome of streak gonads and normal male karyotype in five phenotypic females. N Engl J Med 283: 6–11, 1980
McDonough PG, Byrd JR, Mahesh VB: Ovarian and peripheral venous steroids in XY gonadal dysgenesis and gonadoblastoma. Obstet Gynecol 47: 351–355, 1976
Simpson JL: Gonadal dysgenesis. In Simpson JL (ed): Disorders of Sexual Differentiation. New York, Academic Press, 1976, pp 259–302
Biglieri EG, Herron MA, Brust N: 17-hydroxylation deficiency in man. J Clin Invest 45: 1946–1954, 1966
New MI: Male pseudohermaphroditism due to 17 -alpha-hydroxylase deficiency. J Clin Invest 49: 1930, 1940
Kater CE, Biglieri EG, Brust N, Chang B, Hirai J: The unique patterns of plasma aldosterone and 18-hydroxycorticosterone concentrations in the 17-alpha-hydroxylase syndrome. J Clin Endocrinol Metab 55: 295–302, 1982
de Gennes JL, Jambort S, Turpin G, Elkik F, Roger M: 17-alpha-hydroxylase deficiency syndrome associated with bilateral streak gonads and impaired development of mullerian duct derivatives. Acta Endocrinol 100: 68–76, 1982
SaezJM, De Peretti E, Morera AM, Bertrand J: Further in vivo studies in male pseudohermaphroditism with gynecomastia due to a testicular 17-ketosteroid reductase defect (compared to a case of testicular feminization). J Clin Endocrinol Metab 34: 598–600, 1972
SaezJM, de Peretti E, Morera AM, David M, Bertrand J: Familial male pseudohermaphro¬ditism with gynecomastia due to a testicular 17-ketosteroid reductase defect. I. Studies in vivo. J Clin Endocrinol Metab 32: 604, 1971
Peterson RE, Imperato-McGinleyJ, GautierT, Sturba E: Male pseudohermaphroditism due to steroid 5 alpha-reductase deficiency. Am J Med 62: 170 - 191, 1977
Maes M, Sultran C, Zerkouni N, Rothwell S, Migeon C: Role of testosterone binding to the androgen receptor in male sexual differentiation of patients with 5 reductase deficiency. J Steroid Biochem 11: 1385–1392, 1979
Simpson JL: Male pseudohermaphroditism. In Simpson JL (ed): Disorders of Sexual Differentiation. New York, Academic Press, 1976, pp 183–224
ArmheinJA, Meyer J III, Jones HWJr, Migeon CJ: Androgen insensitivity in man: Evidence for genetic heterogeneity. Proc Natl Acad Sci USA 73: 891–894, 1976
Meyer WJ III, Migeon BR, Migeon CJ: Locus on human X chromosome for dihydrotestosterone receptor and androgen insensitivity. Proc Natl Acad Sei USA 72: 1469 - 1472, 1975
French FS, Baggett E, Van Wyk JJ, Talbert LM, Hubbard WR, Johnston FR, Weaver RP, Forchielli E, Rao GS, Sarda JR: Testicular feminization: clinical, morphological and biochemical studies. J Clin Endocrinol Metab 25: 661–677, 1965
Morris JMcL: The syndrome of testicular feminization in male pseudohermaphrodites. Am J Obstet Gynecol 65: 1192–1227, 1953
Morris JMcL, Mahesh VB: Further observations on the syndrome “testicular feminization.” Am J Obstet Gynecol 87: 731–748, 1963
Wilson JD, MacDonald PC: Male pseudoher-maphroditism due to androgen resistance: testicular feminization and related syndromes. In StandburyJB, Wyngaarden JB, Fredericksen DS (eds): The Metabolic Basis of Inherited Disease. New York, McGraw-Hill, 1978, p 894
Griffin JE, Durrant JL: The frequency of qualitative receptor defects in 32 families with androgen resistance. Clin Res 29: 505A, 1981
Griffin JE, Wilson JD: The syndromes of androgen resistance. N Engl J Med 302: 198–209, 1979
Kennon BS, Meyer WJ III, Hadjian AJ, Jones HW, Migeon CJ: Syndrome of androgen insensitivity in man: Absence of 5-dihydrotesto- sterone binding protein in skin fibroblasts. J Clin Endocrinol Metab 38: 1143, 1974
Brown TR, Maes M, Rothwell SW, Migeon CJ: Human complete androgen insensitivity with normal dihydrotestosterone receptor binding capacity in cultured genital skin fibroblasts: evidence of a qualitative abnormality of the receptor. J Clin Endocrinol Metab 55: 61–69, 1982
Griffin JE: Testicular feminization associated with a thermolabile androgen receptor in cultured human fibroblast. J Clin Invest 64: 1624–1631, 1979
Medina M, Chavez B, Perez-Pelacios G: Defective androgen action at the cellular level in androgen resistance syndromes. I. Differences between the complete and incomplete testicular feminization syndromes. J Clin Endocrinol Metab 53: 1243–1246, 1981
Johnson JG, Byrd JR, McDonough PG: True hermaphroditism with peripheral blood and gonadal karyotyping. Obstet Gynecol 54:549– 553, 1979
vanNiekerk WA: True Hermaphroditism. New York, Harper 8c Row, 1974
vanNiekerk WA, Retif AE: The gonads of human true hermaphrodites. Hum Genet 58:117–122, 1981
Tiltman AJ, Sweerts M: Multiparity in a covert true hermaphrodite. Obstet Gynecol 60: 752–754, 1982
Simpson JL: Sex-reversal in man: 46,XX males and true hermaphrodites. In Simpson JL (ed): Disorders of Sexual Differentiation. New York, Academic Press, 1976, pp 225–258
de la Chapelle A: The etiology of maleness in 46,XX men. Hum Genet 58: 105–116, 1981
New MI, Levin LS: Congenital adrenal hyperplasia. Clin Biochem 14: 258–272, 1981
Werder EA, Siebenmon RE, Girard J, Zach- mann M, Prader A: The incidence of congenital adrenal hyperplasia in Switzerland—a survey of patients born in 1960 to 1974. Helv Paediatr Acta 35: 5–11, 1980
Zachman M, Tassinari D, Prader A: Clinical and biochemical variability of congenital ad¬renal hyperplasia due to 11 p-hydroxylase deficiency. A study of 25 patients. J Clin Endocrinol Metab 56: 222–229, 1983
Jones HW Jr, Scott WW: The diagnosis and therapy of intersexuality. In Jones HW, Scott WW (eds): Hermaphroditism, Genital Anomalies and Related Endocrine Disorders. Baltimore, Williams 8c Wilkins, 1971, pp 321-–354
Kohn B, Levine L, Pollack MS, Pang S, Loren- zen F, Levy D, Lerner AJ, Rondanini KGF, Dupont B, New M: Late onset steroid 21- hydroxylase deficiency: a variant of classical congenital adrenal hyperplasia. J Clin Endocrinol Metab 55: 817–827, 1982
Levine LS, Dupont B, Lorenzen F, Pang S, Pollack M, Oberfield S, Kohn B, Lerner A, Cacciari E, Mantero F, Cassio A, Scaroni C, Chiumello G, Rondanini GF, Garantini L, Giovanelli G, Virdis R, Bartolotta E, Miglori C, Pintor C, Tato L, Barboni F, New MI: Cryptic 21 -hydroxylase deficiency in families of patients with classical congenital adrenal hy¬perplasia. J Clin Endocrinol Metab 51:1316-–1324, 1980
Levine LS, Dupont B, Lorenzen F, Pang S, Pollack M, Oberfield SE, Kohn B, Lerner A, Cacciari E, Mantero F, Cassio A, Scaroni C, Chiumello G, Rondanini FG, Gargantini L, Giovanelli G, Virdis R, Bartolotta E, Miglori C, Pintor C, Tato L, Barboni F, New MI: Genetic and hormonal characterization of cryptic 21-hydroxylase deficiency. J Clin Endo¬crinol Metab 53: 1193–1198, 1981
Levin LS, Zachmann M, New MI, Prader A, Pollack MS, O’Neill GJ, Yang SY, Oberfield S, Dupont B: Genetic mapping of the 21-hydroxylase deficiency gene within the HLA linkage group. N Engl J Med 299: 911–915, 1978
Bartter FC: Adrenogenital syndromes from physiology to chemistry (1950-1975). In Lee PA, Plotnick LP, Kowarski AA, Migeon CJ (eds): Congenital Adrenal Hyperplasia. Balti¬more, University Park Press, 1977, p 9
Rosier A, Levine LS, Schneider B, Novogroder M, New MI: The interrelationship of sodium balance, plasma renin activity and ACTH in congenital adrenal hyperplasia. J Clin Endocrinol Metab 45: 500–512, 1977
Bercovici JP, Khouri S, le Fur JM, Saleun JP, Nahoul K, Scholler R: Hormonal profiles of heterozygotes in humans for 21-hydroxylase deficiency defined by HLA B typing. J Steroid Biochem 14: 1049–1054, 1981
New MI, Dupont B, Pollack MS, Levine LS: The biochemical basis for genotyping 21- hydroxylase deficiency. Hum Genet 58:123-–127, 1981
Lee PA, Urban MD, GutaiJP, Migeon CJ: Plasma progesterone, 17-hydroxyprogesterone, androstenedione, and testosterone in prepubertal, pubertal and adult subjects with congenital adrenal hyperplasia as indicators of adrenal suppression. Hormone Res 13: 347, 1980
Jones HW Jr: Nonadrenal female pseudo-hermaphroditism. Pediatr Adol Endocrinol 8: 65, 1981
Verhoeuen ATM, Mastboon JL, Van Leusden HAIM, van der Veiden WHM: Virilization in pregnancy coexisting with an (ovarian) mucinous cystadenoma. A case report and review of virilizing ovarian tumors in pregnancy. Obstet Gynecol Surg 28: 597, 1973
Sternberg WH, Barclay PL: Luteoma of pregnancy. Am J Obstet Gynecol 95: 165–184, 1966
Ishizuka N, Kawashima P, Nakanish T, Sugawa T, Nishihawa I: Statistical observations on genital anomalies of newborns following the administration of progestins to mothers. J Jpn Obstet Gynaecol Soc 9: 271, 1962
Bongiovanni AM, McFadden AJ: Steroids during pregnancy and possible fetal consequences. Fértil Steril 11: 181–186, 1960
Castro-Magana M, Cheruvanky T, Collipp PJ, Ghavami-Miabodi Z, Angelo M, Stewart C: Transient adrenogenital syndrome due to exposure to danazol. Am J Dis Child 135: 1032–1034, 1981
Schwartz RP: Ambiguous genitalia in a term female infant due to exposure to danazol in utero. Am J Dis Child 136: 474, 1982
Klinefelter HF Jr, Reifenstein EC Jr, Albright FC: Syndrome characterized by gynecomastia, aspermatogenesis without A-leydigism and increased excretion of follicle-stimulating hormone. J Clin Endocrinol 2: 615–627, 1942
Simpson JL: Klinefelter syndrome. In Simpson JL (ed): Disorders of Sexual Differentiation. New York, Academic Press, 1976, pp 303-–322
Bauman A, Bauman C: Virilizing adrenocortical carcinoma development in a patient with salt-losing congenital adrenal hyperplasia. JAMA 24B: 3140–3141, 1982
Duck SC: Malignancy associated with congenital adrenal hyperplasia. J Pediatr 99:423–424,
Levine LS, New MI: Neoplasms associated with congenital adrenal hyperplasia. J Pediatr 100: 506–507, 1982
Scheike O, Visfield J, Petersen B: Male breast cancer. III. Breast carcinoma in association with the Klinefelter syndrome. Acta Pathol Microbiol Scand 81: 352–358, 1973
Money J, Hampson JC, HampsonJL: Herma-phroditism: recommendations concerning assignment of sex, change of sex and psychologic management. Bull Johns Hopkins Hosp 97: 284, 1955
Nagamani M, McDonough PG, Ellegood JO, Mahesh VB: Maternal and amniotic fluid 17-hydroxyprogesterone levels during pregnancy: diagnosis of congenital adrenal hyperplasia in utero. Am J Obstet Gynecol 130: 719, 1981
Couillin P, Boue J, Nicolas H, Chervy C, Boue A: Prenatal diagnosis of congenital adrenal hyperplasia (21-OH deficiency type) by HLA typing. Prenatal Diagn 1: 25–33, 1981
Evans MI, Chrousos GP, Mann DL, Larsen JW, Loriaux DL, Fletcher JC, Schulman JD: Abnormal genital masculinization in congenital adrenal hyperplasia: Attempted prevention by adrenocortical suppression in utero. Presented at the 30th Annual Meeting of Society for Gynecologic Investigation, Washington, D.C., 1982
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Reindollar, R.H., McDonough, P.G. (1985). The Child with Ambiguous Genitalia. In: Lavery, J.P., Sanfilippo, J.S. (eds) Pediatric and Adolescent Obstetrics and Gynecology. Clinical Perspective in Obstetrics and Gynecology. Springer, New York, NY. https://doi.org/10.1007/978-1-4612-5064-7_5
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DOI: https://doi.org/10.1007/978-1-4612-5064-7_5
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