Androgen insensitivity syndrome vs 5-alpha reductase deficiency usmle – Androgen insensitivity syndrome (AIS) and 5-alpha reductase deficiency (5-ARD) are two distinct conditions that share similarities in their clinical presentation but differ in their underlying genetic and hormonal mechanisms. Understanding the key differences between these conditions is crucial for accurate diagnosis and management in the context of the USMLE.
This comprehensive guide will delve into the genetic basis, clinical manifestations, diagnostic criteria, treatment options, and differential diagnosis of AIS and 5-ARD, providing a thorough understanding of these complex conditions.
Androgen Insensitivity Syndrome (AIS) vs 5-Alpha Reductase Deficiency (5-ARD)
Androgen insensitivity syndrome (AIS) dan 5-alpha reductase deficiency (5-ARD) adalah kelainan genetik yang memengaruhi perkembangan sistem reproduksi pada pria.
AIS disebabkan oleh mutasi pada gen reseptor androgen (AR), sedangkan 5-ARD disebabkan oleh mutasi pada gen yang mengkode enzim 5-alpha reductase.
Clinical Manifestations
Androgen Insensitivity Syndrome (AIS)
- Fenotipe wanita pada individu genetik pria (46,XY)
- Payudara berkembang
- Tidak adanya rambut kemaluan dan ketiak
- Testis berada di dalam rongga perut atau di saluran inguinalis
- Klitoris membesar
5-Alpha Reductase Deficiency (5-ARD)
- Fenotipe pria sebagian pada individu genetik pria (46,XY)
- Mikropenis
- Kriptorkismus (testis tidak turun)
- Hipospadia (lubang uretra yang tidak pada ujung penis)
Diagnosis, Androgen insensitivity syndrome vs 5-alpha reductase deficiency usmle
Androgen Insensitivity Syndrome (AIS)
- Riwayat keluarga atau riwayat pribadi kelainan intersex
- Pemeriksaan fisik yang menunjukkan karakteristik AIS
- Tes genetik untuk mengonfirmasi mutasi pada gen AR
5-Alpha Reductase Deficiency (5-ARD)
- Riwayat keluarga atau riwayat pribadi kelainan intersex
- Pemeriksaan fisik yang menunjukkan karakteristik 5-ARD
- Tes genetik untuk mengonfirmasi mutasi pada gen 5-alpha reductase
Management
Androgen Insensitivity Syndrome (AIS)
- Terapi hormon dengan estrogen dan progestin
- Operasi untuk menghilangkan testis
5-Alpha Reductase Deficiency (5-ARD)
- Terapi hormon dengan testosteron
- Operasi untuk memperbaiki kelainan genital
Differential Diagnosis
Androgen Insensitivity Syndrome (AIS)
- Sindrom Mayer-Rokitansky-Kuster-Hauser (MRKH)
- Sindrom insensitivitas testosteron parsial
5-Alpha Reductase Deficiency (5-ARD)
- Sindrom Reifenstein
- Sindrom ketidakpekaan androgen lengkap
Question Bank: Androgen Insensitivity Syndrome Vs 5-alpha Reductase Deficiency Usmle
What is the genetic basis of AIS?
AIS is caused by mutations in the androgen receptor (AR) gene, located on the X chromosome.
How does 5-ARD differ from AIS in terms of hormonal profile?
In 5-ARD, testosterone levels are normal or elevated, while dihydrotestosterone (DHT) levels are low. In contrast, AIS patients have normal or low levels of both testosterone and DHT.
What is the role of hormone replacement therapy in the management of AIS?
Hormone replacement therapy with estrogen and/or progesterone is used in AIS to promote female secondary sexual characteristics and prevent osteoporosis.
