46,XY disorder of sex development due to isolated 17, 20 lyase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: MALE PSEUDOHERMAPHRODITISM DUE TO DEFICIENCY OF TESTICULAR 17,20-DESMOLASE
SRXY8
TDD
Number of Symptoms 20
OrphanetNr: 90796
OMIM Id: 614279
ICD-10: E29.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: 46,XY disorder of sex development due to testicular steroidogenesis defect
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare gynecologic or obstetric disease
 -Rare urogenital disease

Symptom Information: Sort by abundance 

1
 (HPO:0000062) Ambiguous genitalia 74 / 7739
2
 (HPO:0000037) Male pseudohermaphroditism 25 / 7739
3
 (HPO:0000028) Cryptorchidism 347 / 7739
4
 (HPO:0012245) Sex reversal 13 / 7739
5
 (OMIM) Undervirilization 1 / 7739
6
 (OMIM) Increase in pregnanediol and pregnanetriol after ACTH stimulation 1 / 7739
7
 (OMIM) Absent or minimal increase in pregnanetriol after HCG stimulation 1 / 7739
8
 (OMIM) Urinary 17-hydroxycorticoids normal 1 / 7739
9
 (OMIM) No increase in testosterone after HCG or ACTH stimulation 1 / 7739
10
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
11
 (OMIM) Rudimentary mullerian structures (rare) 1 / 7739
12
 (OMIM) Minimal testosterone yielded by progesterone and pregnenolone or their respective 17-alpha-hydroxylates 1 / 7739
13
 (OMIM) Baseline pregnanediol and pregnanetriol normal 1 / 7739
14
 (OMIM) Low urinary estrogens 1 / 7739
15
 (OMIM) Marked increase in pregnanetriolone after HCG or ACTH stimulation 1 / 7739
16
 (OMIM) Urinary 17-oxosteroids normal 1 / 7739
17
 (OMIM) Testicular tissue able to convert dihydroepiandrosterone and androstenedione to testosterone 1 / 7739
18
 (OMIM) Elevated urinary gonadotropins 1 / 7739
19
 (OMIM) Pregnanetriolone (Ptl) present in urine 1 / 7739
20
 (OMIM) Absent dehydroepiandrosterone-sulphate, even after ACTH stimulation 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Zachmann et al. (1972) studied 2 male cousins, karyotype 46,XY, who were the sons of sisters and who had ambiguous genitalia and cryptorchidism. One of the boys had 2 older sibs who were phenotypic females. A 46,XY maternal ...
Molecular genetics OMIM In the Swiss family with 46,XY sex reversal originally studied by Zachmann et al. (1972), Fluck et al. (2011) excluded mutations in candidate genes from the classic pathway of steroid biosynthesis, e.g., CYP17A1 (609300), POR (124015), NR5A1 (184757), ...