The key difference between androgen insensitivity syndrome and Mullerian agenesis is that androgen insensitivity syndrome is a congenital disorder characterized by the partial or complete inability of cells to respond to androgens, while Mullerian agenesis is a congenital disorder characterized by the failure of the Müllerian ducts to develop.
Androgen insensitivity syndrome and Mullerian agenesis are two congenital disorders. Androgen insensitivity syndrome is a genetic condition due to androgen receptor dysfunction. It is predominantly seen in men. On the other hand, Mullerian agenesis affects females. It is a rare medical condition that is due to the improper development of Mullerian ducts, leading to an underdeveloped vagina and uterus. However, both these conditions are development defects with primary amenorrhea.
CONTENTS
1. Overview and Key Difference
2. What is Androgen Insensitivity Syndrome
3. What is Mullerian Agenesis
4. Similarities – Androgen Insensitivity Syndrome and Mullerian Agenesis
5. Androgen Insensitivity Syndrome vs Mullerian Agenesis in Tabular Form
6. Summary – Androgen Insensitivity Syndrome vs Mullerian Agenesis
What is Androgen Insensitivity Syndrome?
Androgen insensitivity syndrome is a congenital disorder predominantly seen in men. It causes hormonal resistance due to androgen receptor dysfunction. This condition is characterized by the partial or complete inability of cells to respond to androgens. In androgen insensitivity syndrome, the affected person is genetically a male resistant to male hormones or androgens. The symptoms of this condition may include abnormally tall stature, amenorrhea, little or no pubic hair, narrow or shallow vagina, undescended testicles, bifid scrotum, clitoromegaly, gynecomastia, hypospadias, labial adhesions, micropenis, gynecomastia, and sparse body hair. Moreover, androgen insensitivity syndrome is due to abnormal or mutated X-linked genes (AR gene).
Androgen insensitivity syndrome can be diagnosed through physical examination, blood test, and imaging test (ultrasound). The treatment options for androgen insensitivity syndrome may include surgery to repair (hypospadias repair or orchiopexy), breast reduction surgery, hernia repair, and hormone therapy with testosterone.
What is Mullerian Agenesis?
Mullerian agenesis is a congenital disorder characterized by the failure of the müllerian ducts to develop. This condition leads to atresia of the vagina or uterus or both. Mullerian agenesis is caused due to a mutation of a gene in chromosome 1 called WNT4 and microdeletion in chromosome 17 (17q12 microdeletion syndrome, the gene affected is LHX1). The symptoms of this condition include primary amenorrhoea, uterine factor infertility, underdeveloped uterus and upper vagina, bowel problems, congenital spine conditions, kidney abnormalities, hearing loss, and urinary problems. However, females suffering from Mullerian agenesis have normal ovaries.
Moreover, Mullerian agenesis is diagnosed through medical health history, physical examination, blood test, imaging scans (MRI), and genetic testing. Furthermore, treatment options for Mullerian agenesis may include psychosocial counselling, vaginal elongation, and surgical creation of neovagina.
What are the Similarities Between Androgen Insensitivity Syndrome and Mullerian Agenesis?
- Androgen insensitivity syndrome and Mullerian agenesis are two congenital disorders.
- They are rare conditions.
- Both disorders are due to genetic mutations.
- These disorders may share certain symptoms, such as primary amenorrhea.
- Both conditions can be diagnosed through physical examinations, blood tests, and imaging scanning.
- They can be treated through specific surgeries.
What is the Difference Between Androgen Insensitivity Syndrome and Mullerian Agenesis?
Androgen insensitivity syndrome is a congenital disorder characterized by the partial or complete inability of cells to respond to androgens, while Mullerian agenesis is a congenital disorder characterized by the failure of the müllerian ducts to develop. Thus, this is the key difference between androgen insensitivity syndrome and Mullerian agenesis. Furthermore, androgen insensitivity syndrome mainly affects males, while Mullerian agenesis mainly affects females.
The below infographic presents the differences between androgen insensitivity syndrome and Mullerian agenesis in tabular form for side-by-side comparison.
Summary – Androgen Insensitivity Syndrome vs Mullerian Agenesis
Androgen insensitivity syndrome and Mullerian agenesis are two rare congenital disorders that are due to genetic mutations. Both disorders may share certain symptoms, such as primary amenorrhea. Androgen insensitivity syndrome is characterized by the partial or complete inability of cells to respond to androgens, while Mullerian agenesis is characterized by the failure of the müllerian ducts to develop. So, this summarizes the difference between androgen insensitivity syndrome and Mullerian agenesis.
Reference:
1. “Androgen Insensitivity Syndrome.” MedlinePlus, U.S. National Library of Medicine.
2. “Müllerian Agenesis: Diagnosis, Management, and Treatment.” ACOG.
Image Courtesy:
1. “Functional domains of the human androgen receptor” By Jonathan.Marcus – Own work (CC BY-SA 3.0) via Commons Wikimedia
2. “Mullerian duct development” By Devinka98 – Own work (CC BY-SA 4.0) via Commons Wikimedia