Endocrine, nutritional and metabolic diseases
Disorders of other endocrine glands
Autosomal recessive
9q22.32
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. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 264300.1 | Lebanon | Female | Yes | Clitoral hypertrophy; Female external g... Clitoral hypertrophy; Female external genitalia in individual with 46,XY karyotype  | NM_000197.2:c.238C>T | Homozygous | Autosomal, Recessive | George et al. 2011 | ||
| 264300.G.1 | Palestine | Male | Yes | Ambiguous genitalia; Abnormal circulatin... Ambiguous genitalia; Abnormal circulating androstenedione concentration; Decreased serum testosterone concentration | NM_000197.2:c.239G>A | Homozygous | Autosomal, Recessive | Rosler, 2007 | Group of 21 males fr... | |
| 264300.G.2 | Palestine | Female | Yes | Asymptomatic Asymptomatic | NM_000197.2:c.239G>A | Homozygous | Autosomal, Recessive | Rosler, 2007 | Group of 3 females |