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Testosterone 17-beta-dehydrogenase deficiency

MedGen UID:
120626
Concept ID:
C0268296
Disease or Syndrome
Synonyms: 17 alpha ketosteroid reductase deficiency of testis; 17 alpha KSR deficiency; 17-beta hydroxysteroid dehydrogenase 3 deficiency; 17-beta Hydroxysteroid Dehydrogenase III Deficiency; 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency; Male pseudoherma-phroditism with gynecomastia; Neutral 17 beta hydroxysteroid oxidoreductase deficiency; Pseudohermaphroditism male with gynecomastia
SNOMED CT: Testosterone 17-beta-dehydrogenase deficiency (50658006); 17B-HSD deficiency (50658006); 17-Ketosteroid reductase deficiency (50658006); 17-KSR deficiency (50658006); Neutral 17-beta-hydroxysteroid oxidoreductase deficiency (50658006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): HSD17B3 (9q22.32)
 
Monarch Initiative: MONDO:0009916
OMIM®: 264300
Orphanet: ORPHA752

Definition

HSD17B3 deficiency is an autosomal recessive disorder that manifests, in males, as undermasculinization characterized by hypoplastic-to-normal internal genitalia (epididymis, vas deferens, seminal vesicles, and ejaculatory ducts) but female external genitalia and the absence of a prostate. This phenotype is caused by inadequate testicular synthesis of testosterone, which, in turn, results in insufficient formation of dihydrotestosterone in the anlage of the external genitalia and prostate during fetal development. At the expected time of puberty, there is a marked increase in plasma leuteinizing hormone and, consequently, in testicular secretion of androstenedione. Hence, a diagnostic hallmark of this disorder is a decreased plasma testosterone-to-androstenedione ratio. Significant amounts of the circulating androstenedione are, however, converted to testosterone, in peripheral tissues, thereby causing virilization (summary by Lindqvist et al., 2001). [from OMIM]

Clinical features

From HPO
Infertility disorder
MedGen UID:
43876
Concept ID:
C0021359
Finding
Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues.
Male pseudohermaphroditism
MedGen UID:
68666
Concept ID:
C0238395
Congenital Abnormality
Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes.
Female external genitalia in individual with 46,XY karyotype
MedGen UID:
341167
Concept ID:
C1848178
Finding
The presence of female external genitalia in a person with a male karyotype.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding
Hypothyroidism
MedGen UID:
6991
Concept ID:
C0020676
Disease or Syndrome
Deficiency of thyroid hormone.
Gynecomastia
MedGen UID:
6694
Concept ID:
C0018418
Disease or Syndrome
Abnormal development of large mammary glands in males resulting in breast enlargement.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTestosterone 17-beta-dehydrogenase deficiency
Follow this link to review classifications for Testosterone 17-beta-dehydrogenase deficiency in Orphanet.

Recent clinical studies

Etiology

Wetzel M, Marchais-Oberwinkler S, Perspicace E, Möller G, Adamski J, Hartmann RW
J Med Chem 2011 Nov 10;54(21):7547-57. Epub 2011 Oct 19 doi: 10.1021/jm2008453. PMID: 21972996
Rösler A, Kohn G
J Steroid Biochem 1983 Jul;19(1B):663-74. doi: 10.1016/0022-4731(83)90233-9. PMID: 6310248

Diagnosis

Hassan HA, Mazen I, Gad YZ, Ali OS, Mekkawy M, Essawi ML
Sex Dev 2016;10(2):66-73. Epub 2016 Apr 14 doi: 10.1159/000445311. PMID: 27073926
Wilson SC, Hodgins MB, Scott JS
Clin Endocrinol (Oxf) 1987 Apr;26(4):459-69. doi: 10.1111/j.1365-2265.1987.tb00803.x. PMID: 2820622
Gross DJ, Landau H, Kohn G, Farkas A, Elrayyes E, el-Shawwa R, Lasch EE, Rösler A
Acta Endocrinol (Copenh) 1986 Jun;112(2):238-46. doi: 10.1530/acta.0.1120238. PMID: 3017038
Balducci R, Toscano V, Wright F, Bozzolan F, Di Piero G, Maroder M, Panei P, Sciarra F, Boscherini B
Clin Endocrinol (Oxf) 1985 Oct;23(4):439-44. doi: 10.1111/j.1365-2265.1985.tb01102.x. PMID: 2998649
Rösler A, Kohn G
J Steroid Biochem 1983 Jul;19(1B):663-74. doi: 10.1016/0022-4731(83)90233-9. PMID: 6310248

Therapy

Gross DJ, Landau H, Kohn G, Farkas A, Elrayyes E, el-Shawwa R, Lasch EE, Rösler A
Acta Endocrinol (Copenh) 1986 Jun;112(2):238-46. doi: 10.1530/acta.0.1120238. PMID: 3017038

Prognosis

Agarwal AK, Mune T, Monder C, White PC
Endocr Res 1995 Feb-May;21(1-2):389-97. doi: 10.3109/07435809509030455. PMID: 7588402
Gross DJ, Landau H, Kohn G, Farkas A, Elrayyes E, el-Shawwa R, Lasch EE, Rösler A
Acta Endocrinol (Copenh) 1986 Jun;112(2):238-46. doi: 10.1530/acta.0.1120238. PMID: 3017038

Clinical prediction guides

Agarwal AK, Mune T, Monder C, White PC
Endocr Res 1995 Feb-May;21(1-2):389-97. doi: 10.3109/07435809509030455. PMID: 7588402
Theintz GE, Steimer TJ, Sizonenko PC
Horm Res 1989;32(4):124-9. doi: 10.1159/000181273. PMID: 2560455

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