See also: diseases of sexual differenciation (DSDs)
Chromosomal classifcation
Morphological classification
true hermaphrodism
MGD
pseudohermaphrodisms
male pseudohermaphrodism
female pseudohermaphrodism
Etiology
chromosomal diseases
monogenic diseases
caudal regression syndrome
Case records
Case 10645: caudal regression syndrome with lumbosacral agenesis
Reviews
MacLaughlin DT, Donahoe PK. Sex determination and differentiation. N Engl J Med. 2004 Jan 22;350(4):367-78. PMID: 14736929
Vaiman D, Pailhoux E. Mammalian sex reversal and intersexuality: deciphering the sex-determination cascade. Trends Genet. 2000 Nov;16(11):488-94. PMID: 11074290
Behrman: Nelson Textbook of Pediatrics, 16th ed., Chapter 598 - Hermaphroditism (Intersexuality), p. 1760-1767.
Cotinot C, Pailhoux E, Jaubert F, Fellous M. Molecular Genetics of Sex Determination, Seminars in Reproductive Medicine, 2002; p. 157-168.
Hutcheson J. Ambiguous Genitalia and Intersexuality, eMedicine Journal, 2002, 3(8); p.1-25.
McGregor L et al. Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein, Nature Genetics, 2003, 34(2); p. 203-208.
Sultan C, Paris F, Jeandel C, Lumbroso S, Benoît Galifer R. Ambiguous Genitalia in the Newborn, Seminars in Reproductive Medicine, 2002; p. 181-188.
References
New insights into type II germ cell tumor pathogenesis based on studies of patients with various forms of disorders of sex development (DSD). Hersmus R, de Leeuw BH, Wolffenbuttel KP, Drop SL, Oosterhuis JW, Cools M, Looijenga LH. Mol Cell Endocrinol. 2008 Sep 10;291(1-2):1-10. PMID: 18403106
Books
Oxford Medical Databases
London Dysmorphology Database
Potter’s Pathology of the Fetus and Infant, Chapter 27 - Reproductive System, editor Enid Gilbert-Barness, p. 1202-1241.
Walsh: Campbell’s Urology, 8th ed., Chapter 68 - Sexual Differentiation: Normal and Abnormal, 2002, p. 2395-2423.