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| Disease found: | 7-beta hydroxysteroid dehydrogenase 3 deficiency |
| Current as of: | October 8, 2024 |
| Disease Overview: | Autosomal recessive mutations in the HSD17B3 gene that affects male sexual development. People with this condition are genetically male and have testes, but do not produce enough testosterone. [more info] |
| Signs and Symptoms: | Abnormal Sex Organ Development: Abnormality of the urethra, Ambiguous genitalia, Cryptorchidism, Gynecomastia, Male pseudohermaphroditism [more info] |
| Diagnosis: | Hormone evaluation/testing and genetic mutation analysis of the HSD17B3 gene.[more info] |
| Treatment: | Replacement of glucocorticoids, mineralocorticoids, plus the addition of sex steroids at appropriate, pubertal age. [more info] |
| Clinical Management: | Prolonged use of replacement of glucocorticoids, mineralocorticoids, plus the addition of sex steroids at appropriate, pubertal age [more info] |
| Referral: | No specific physicians specialize in this condition but NORD recommends various rare disease clinics. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | None is available, but can sign up to be notified when one becomes available |