Undervirilized male syndrome
Undervirilized Male Syndrome Undervirilized Male Syndrome (UMS) is a rare condition characterized by incomplete masculinization of a genetically male individual. This condition can result from various genetic, hormonal, or environmental factors that affect the development of male physical characteristics.
Etiology[edit | edit source]
The causes of Undervirilized Male Syndrome can be diverse, including:
- Androgen Insensitivity Syndrome
- 5-alpha-reductase deficiency
- Congenital Adrenal Hyperplasia
- Genetic mutations affecting testosterone synthesis or action
Pathophysiology[edit | edit source]
UMS occurs when there is a disruption in the normal process of male sexual differentiation. This can happen due to:
- Insufficient production of testosterone
- Impaired conversion of testosterone to dihydrotestosterone (DHT)
- Defective androgen receptors
Clinical Features[edit | edit source]
Individuals with UMS may present with a range of symptoms, including:
- Ambiguous genitalia
- Micropenis
- Hypospadias
- Cryptorchidism
- Gynecomastia
Diagnosis[edit | edit source]
Diagnosis of UMS involves:
- Detailed medical history and physical examination
- Hormonal assays to measure levels of testosterone, DHT, and other relevant hormones
- Genetic testing to identify mutations
- Imaging studies such as ultrasound or MRI
Management[edit | edit source]
Management of UMS is multidisciplinary and may include:
- Hormone replacement therapy
- Surgical correction of genital anomalies
- Psychological support and counseling
Prognosis[edit | edit source]
The prognosis for individuals with UMS varies depending on the underlying cause and the effectiveness of treatment. Early diagnosis and intervention can improve outcomes.
See Also[edit | edit source]
External Links[edit | edit source]
NIH genetic and rare disease info[edit source]
Undervirilized male syndrome is a rare disease.
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Contributors: Prab R. Tumpati, MD
