Idiopathic male pseudohermaphroditism: Variations in presentation and management

Journal of Pediatric Endocrinology and Metabolism

Volumn 18, Issue 6, 2005, Pages 569-575

  Meau Petit, V ^a,b   Marcou, V ^a,d   Trivin, C ^c   Lortat Jacob, S ^c   McElreavey, K ^b   Brauner, Raja ^a,e  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b INSTITUT PASTEUR   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^e NONE   (France)

Author keywords

Cryptorchidism; Gonad; Hypospadias; Male pseudohermaphroditism; Sexual ambiguity; Sexual development; SRY gene

Indexed keywords

TESTOSTERONE; TESTOSTERONE ENANTATE;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; DATA ANALYSIS; FAMILY HISTORY; FEMALE; GENE MUTATION; GONAD; GONADAL DYSGENESIS; HISTOLOGY; HUMAN; HYPOSPADIAS; INFANT; KARYOTYPE 46,XY; LOW BIRTH WEIGHT; MALE; MALE PSEUDOHERMAPHRODITISM; MICROPENIS; PRACTICE GUIDELINE; PRIMARY AMENORRHEA; REARING; RETROSPECTIVE STUDY; SEXUAL DEVELOPMENT; SRY GENE; TESTOSTERONE RELEASE; UROGENITAL TRACT RADIOGRAPHY; VAGINA;

EID: 21444461402     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2005.18.6.569     Document Type: Article

References (25)

1. Kupfer SR, Quigley CA, French FS. Male pseudohermaphroditism. Semin Perinatol 1992; 16: 319-331.
2. Neri G, Opitz J. Syndromal (and nonsyndromal) forms of male pseudohermaphroditism. Am J Med Genet 1999; 89: 201-209.
3. François, van Helvoirt M, de Zegher F. Male pseudohermaphroditism related to complications at conception, in early pregnancy or in prenatal growth. Horm Res 1999; 51: 91-95.
4. Berkovitz GD. Abnormalities of gonadal determination and differentiation. Semin Perinatol 1992; 16: 289-298.
5. Rajfer J, Walsh PC. Mixed gonadal dysgenesis-dysgenetic male pseudohermaphroditism. In: Josso N, ed. The Intersex Child. Basel: Karger, 1981; 105-115.
6. Leroy B, Lefort F. The weight and size of newborn infants at birth. Rev Fr Gynecol Obstet 1971; 66: 391-396.
7. Flatau E, Josefsberg Z, Reisner SH, Bialik O, Laron Z. Penile size in the newborn infant [Letter]. J Pediatr 1975; 87: 663-664.
8. Prader A. Der Genitalbefund beim Pseudohermaphroditismus feminus des kongenitalen androgenitlalen Syndromes: Morphologie, Haüfigkeit, Entwicklung and Vererbung der verschiedenen Genitalformen. Helv Paediatr Acta 1954; 9: 231-248.
9. Veitia R, Ion A, Barbaux S, Jobling MA, Souleyreau N, Ennis K, Ostrer H, Tosi M, Meo T, Chibani J, Fellous M, McElreavey K. Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype. Hum Genet 1997; 99: 648-652.
10. McElreavey K, Fellous M. Sex determination and the Y chromosome. Am J Med Genet 1999; 89: 176-185.
11. Paulozzi LJ, Erickson JD, Jackson RJ. Hypospadias trends in two US surveillance systems. Pediatrics 1997; 100: 831-834.
12. Fredell L, Iselius L, Collins A, Hansson E, Holmer S, Lundquist L, Lackgren G, Pedersen J, Stenberg A, Westbacke G, Nordenskjold A. Complex segregation analysis of hypospadias. Hum Genet 2002; 111: 231-234.
13. Aaronson IA, Cakmak MA, Key LL. Defects of the testosterone biosynthetic pathway in boys with hypospadias. J Urol 1997; 157: 1884-1888.
14. Feyaerts A, Forest MG, Morel Y, Mure PY, Morel-Journel N, Mallet D, Nicolino M, Chatelain P, David M, Mouriquand P. Endocrine screening in 32 consecutive patients with hypospadias. J Urol 2002; 168: 720-725.
15. Bauer SB, Bull MJ, Retik AB. Hypospadias: a familial study. J Urol 1979; 121: 474-477.
16. Hussain N, Chaghtai A, Herndon CD, Herson VC, Rosenkrantz TS, McKenna PH. Hypospadias and early gestation growth restriction in infants. Pediatrics 2002; 109: 473-478.
17. Fredell L, Kockum I, Hansson E, Holmner S, Lundquist L, Lackgren G, Pedersen J, Stenberg A, Westbacke G, Nordenskjold A. Heredity of hypospadias and the significance of low birth weight. J Urol 2002; 167: 1423-1427.
18. Fredell L, Lichtenstein P, Pedersen NL, Svensson J, Nordenskjold A. Hypospadias is related to birth weight in discordant monozygotic twins. J Urol 1998; 160: 2197-2199.
19. Pinsky L, Erickson RP, Schimke RN. Non-syndromal abnormalities of sexual development in males and females. In: Genetic Disorders of Human Sexual Development. New York: Oxford University Press. 1999; 321-342.
20. Hadziselimovic F, Herzog B. The importance of both an early orchidopexy and germ cell maturation for fertility. Lancet 2001; 358: 1156-1157.
21. Hadziselimovic F, Herzog B, Buser M. Development of cryptorchid testes. Eur J Pediatr 1987; 146 (Suppl 2): S8-12.
22. Skakkebaek NE, Rajpert-De Meyts E, Main KM. Testicular dysgenesis syndrome: an increasingly common developmental disorder with environmental aspects. Hum Reprod 2001; 16: 972-978.
23. Gorlov IP, Kamat A, Bogatcheva NV, Jones E, Lamb DJ, Truong A, Bishop CE, McElreavey K, Agoulnik AI. Mutations of the GREAT gene cause cryptorchidism. Hum Mol Genet 2002; 11: 2309-2318.
24. Huhtaniemi IT. LH and FSH receptor mutations and their effects on puberty. Horm Res 2002; 57 (Suppl 2): 35-38.
25. Verp MS, Simpson JL. Abnormal sexual differentiation and neoplasia. Cancer Genet Cytogenet 1987; 25: 191-218.