46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

17-beta-hydroxysteroid dehydrogenase isozyme 3 (17betaHSD III) deficiency is a rare disorder leading to male pseudohermaphroditism (MPH), a condition characterized by incomplete differentiation of the male genitalia in 46X,Y males.



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Narrow down the case reports



Total: 3 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(17.5%)		 8300063
 Deficiency of 17-ketoreductase presenting before puberty.
Gregory JW, Aynsley-Green A, Evans BA, Hughes IA, Werder EA, Zachmann M.
Horm Res. 1993;40(4):145-8.
Inguinal hernia
AR
17-Hydroxysteroid Dehydrogenases Androgen Receptor Disorders of Sex Development Homo sapiens Infant, Newborn Male Orchiectomy
2
(4.0%)		 11039078
 Male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase 3 deficiency. Diagnosis, psychological evaluation, and management.
Mendonca BB, Inacio M, Arnhold IJ, Costa EM, Bloise W, Martin RM, Denes FT, Silva FA, Andersson S, Lindqvist A, Wilson JD.
Medicine (Baltimore). 2000;79(5):299-309.
Male pseudohermaphroditism
17-Hydroxysteroid Dehydrogenases Adult Child Disorders of Sex Development Follow-Up Studies Homo sapiens Male
2
(4.0%)		 2863205
 Absent spermatogenesis despite early bilateral orchidopexy in 17-ketoreductase deficiency.
Dumic M, Plavsic V, Fattorini I, Ille J.
Horm Res. 1985;22(1-2):100-6.
Cryptorchidism
17-Hydroxysteroid Dehydrogenases Adult Cryptorchidism Homo sapiens Male Spermatogenesis Testis
        

Phenotype(s) retrieved from Orphanet

    Total: 8

HPO ID Term Frequency
HP:0000028 Cryptorchidism Very frequent (99-80%)
HP:0000037 Male pseudohermaphroditism Very frequent (99-80%)
HP:0000044 Hypogonadotrophic hypogonadism Very frequent (99-80%)
HP:0000062 Ambiguous genitalia Very frequent (99-80%)
HP:0000771 Gynecomastia Very frequent (99-80%)
HP:0000789 Infertility Very frequent (99-80%)
HP:0000795 Abnormality of the urethra Very frequent (99-80%)
HP:0000821 Hypothyroidism Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0000037 Male pseudohermaphroditism 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 3293