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intersexuality

Micropenis and perineal hypospadias in mosaic monosomy X Micropenis and perineal hypospadias in mosaic monosomy X Sexual ambiguity in caudal regression syndrome with lumbosacral agenesis (...) Sexual ambiguity in caudal regression syndrome with lumbosacral agenesis (...) Male pseudhermaphrodism and XY intersex in Smith-Lemli-Opitz (...)

See also: diseases of sexual differenciation (DSDs)

Chromosomal classifcation

- XY intersex
- XX intersex

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.