PRIMARY CARE
Recommendation 1
Prolonged use of replacement of glucocorticoids, mineralocorticoids, plus the addition of sex steroids at appropriate, pubertal age
7-beta hydroxysteroid dehydrogenase 3 deficiency
Not Verified
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.
Common symptoms
Abnormal Sex Organ Development: Abnormality of the urethraAmbiguous genitaliaCryptorchidismGynecomastiaMale pseudohermaphroditism
WHEN TO SUSPECT
Recommendation 1
Hormone evaluation/testing and genetic mutation analysis of the HSD17B3 gene.
HOW TO TEST
Recommendation 1
Hormone evaluation/testing and genetic mutation analysis of the HSD17B3 gene.
TREATMENT
Recommendation 1
Replacement of glucocorticoids, mineralocorticoids, plus the addition of sex steroids at appropriate, pubertal age.
FURTHER SUPPORT
Recommendation 1
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
Sources
No data available
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