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Incomplete male pseudohermaphroditism

MedGen UID:
870209
•Concept ID:
C4024645
•
Congenital Abnormality
HPO: HP:0008656

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncomplete male pseudohermaphroditism

Professional guidelines

PubMed

Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.
Stamou MI, Georgopoulos NA
Metabolism 2018 Sep;86:124-134. Epub 2017 Nov 3 doi: 10.1016/j.metabol.2017.10.012. PMID: 29108899Free PMC Article
Androgen Insensitivity Syndrome: Management Considerations from Infancy to Adulthood.
Chen MJ, Vu BM, Axelrad M, Dietrich JE, Gargollo P, Gunn S, Macias CG, McCullough LB, Roth DR, Sutton VR, Karaviti LP
Pediatr Endocrinol Rev 2015 Jun;12(4):373-87. PMID: 26182482
Congenital hypogonadotropic hypogonadism in females: clinical spectrum, evaluation and genetics.
Bry-Gauillard H, Trabado S, Bouligand J, Sarfati J, Francou B, Salenave S, Chanson P, Brailly-Tabard S, Guiochon-Mantel A, Young J
Ann Endocrinol (Paris) 2010 May;71(3):158-62. Epub 2010 Apr 3 doi: 10.1016/j.ando.2010.02.024. PMID: 20363464

Recent clinical studies

Diagnosis

Comparison of immunocytochemical and molecular features with the phenotype in a case of incomplete male pseudohermaphroditism associated with a mutation of the luteinizing hormone receptor.
Misrahi M, Meduri G, Pissard S, Bouvattier C, Beau I, Loosfelt H, Jolivet A, Rappaport R, Milgrom E, Bougneres P
J Clin Endocrinol Metab 1997 Jul;82(7):2159-65. doi: 10.1210/jcem.82.7.4039. PMID: 9215288
Post-pubertal female psychosexual orientation in incomplete male pseudohermaphroditism type 2 (5 alpha-reductase deficiency).
Cantú JM, Corona-Rivera E, Díaz M, Medina C, Esquinca E, Cortés-Gallegos V, Vaca G, Hernández A
Acta Endocrinol (Copenh) 1980 Jun;94(2):273-9. doi: 10.1530/acta.0.0940273. PMID: 6774548
Potential fertility in incomplete male pseudohermaphroditism type 2.
Cantú JM, Hernández-Montes H, Del Castillo V, Sandoval R, Armendares S, Parra A
Rev Invest Clin 1976 Apr-Jun;28(02):177-82. PMID: 959690
Letter: Incomplete male pseudohermaphroditism.
Summitt RL, Givens JR
N Engl J Med 1974 Dec 5;291(23):1258-9. PMID: 4419965
Familial incomplete male pseudohermaphroditism, type 2. Decreased dihydrotestosterone formation in pseudovaginal perineoscrotal hypospadias.
Walsh PC, Madden JD, Harrod MJ, Goldstein JL, MacDonald PC, Wilson JD
N Engl J Med 1974 Oct 31;291(18):944-9. doi: 10.1056/NEJM197410312911806. PMID: 4413434

Therapy

Inherited male pseudohermaphroditism due to gonadotrophin unresponsiveness.
Pérez-Palacios G, Scaglia HE, Kofman-Alfaro S, Saavedra D, Ochoa S, Larraza O, Pérez AE
Acta Endocrinol (Copenh) 1981 Sep;98(1):148-55. doi: 10.1530/acta.0.0980148. PMID: 6792847

Clinical prediction guides

Comparison of immunocytochemical and molecular features with the phenotype in a case of incomplete male pseudohermaphroditism associated with a mutation of the luteinizing hormone receptor.
Misrahi M, Meduri G, Pissard S, Bouvattier C, Beau I, Loosfelt H, Jolivet A, Rappaport R, Milgrom E, Bougneres P
J Clin Endocrinol Metab 1997 Jul;82(7):2159-65. doi: 10.1210/jcem.82.7.4039. PMID: 9215288
Familial incomplete male pseudohermaphroditism associated with impaired nuclear androgen retention. Studies in cultured skin fibroblasts.
Eil C
J Clin Invest 1983 Apr;71(4):850-8. doi: 10.1172/jci110839. PMID: 6833492Free PMC Article
The clinical and endocrine evaluation of a pubertal boy with incomplete male pseudohermaphroditism type 1.
Viinikka L, Hammond GL, Hortling H, Leinonen P, Vihko R
Ann Clin Res 1981 Feb;13(1):34-8. PMID: 7247323
Post-pubertal female psychosexual orientation in incomplete male pseudohermaphroditism type 2 (5 alpha-reductase deficiency).
Cantú JM, Corona-Rivera E, Díaz M, Medina C, Esquinca E, Cortés-Gallegos V, Vaca G, Hernández A
Acta Endocrinol (Copenh) 1980 Jun;94(2):273-9. doi: 10.1530/acta.0.0940273. PMID: 6774548
Familial incomplete virilization due to partial end organ insensitivity to androgens.
Perez-Palacios G, Ortiz S, López-Amor E, Morato T, Febres F, Lisker R, Scaglia H
J Clin Endocrinol Metab 1975 Nov;41(5):946-52. doi: 10.1210/jcem-41-5-946. PMID: 1184725

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