intersex anomalies
Image Gallery
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
References
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.
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.