Summary about Disease
Del Castillo syndrome, also known as Sertoli-Cell-Only Syndrome (SCOS), is a condition characterized by the absence of germ cells (cells that develop into sperm) in the seminiferous tubules of the testes. Sertoli cells, which support sperm development, are the only cells present. This results in infertility.
Symptoms
The primary symptom is infertility. Individuals with Del Castillo syndrome typically appear physically normal and have normal levels of male hormones (androgens) and secondary sexual characteristics. Testicular size may be normal or smaller than average.
Causes
The exact causes of Del Castillo syndrome are often unknown. Potential causes include:
Genetic factors: Chromosomal abnormalities (e.g., Klinefelter syndrome mosaicism) and gene mutations can contribute.
Environmental factors: Exposure to toxins or radiation during fetal development or childhood could potentially play a role, although this is less well-defined.
Testicular Torsion: Infarction of the testicles may damage the organ.
Idiopathic: In many cases, no specific cause can be identified.
Medicine Used
There is no specific medicine to treat Del Castillo syndrome and restore fertility. Treatment focuses on managing related issues and providing support:
Hormone Therapy: In some cases, testosterone replacement therapy may be used if there are signs of androgen deficiency. This will not restore fertility, but can improve secondary sexual characteristics and libido.
Assisted Reproductive Technologies: While individuals with SCOS cannot produce sperm naturally, in rare cases, a few sperm may be found via testicular biopsy (microTESE). If sperm are found, assisted reproductive technologies like in-vitro fertilization (IVF) with intracytoplasmic sperm injection (ICSI) may be an option.
Counseling/Support: Counseling can help individuals and couples cope with the diagnosis and its implications for fertility.
Is Communicable
No, Del Castillo syndrome is not a communicable disease. It is not contagious and cannot be transmitted from one person to another.
Precautions
Since the causes are often unknown or genetic, there are no specific precautions to prevent Del Castillo syndrome in most cases. If exposure to toxins or radiation is suspected as a contributing factor, minimizing exposure to those agents may be prudent, especially during pregnancy. Genetic counseling may be beneficial for families with a history of infertility or related genetic conditions.
How long does an outbreak last?
Del Castillo syndrome is not an outbreak-related disease. It is a chronic condition present from early development. The diagnosis remains for life.
How is it diagnosed?
Diagnosis typically involves:
Semen analysis: Showing azoospermia (absence of sperm in the ejaculate).
Hormone testing: Measuring levels of follicle-stimulating hormone (FSH), luteinizing hormone (LH), and testosterone. FSH levels are often elevated.
Testicular biopsy: The definitive diagnostic test, revealing the presence of only Sertoli cells in the seminiferous tubules and the absence of germ cells.
Genetic testing: To rule out or identify chromosomal abnormalities.
Timeline of Symptoms
Del Castillo Syndrome is present from birth.
Symptoms are not usually apparent until puberty or adulthood when infertility is suspected.
There is no timeline of "outbreak" as it is a constant condition.
Important Considerations
Psychological Impact: Infertility can be emotionally challenging. Providing emotional support and counseling is crucial.
Genetic Counseling: Genetic counseling is recommended for families, especially if there is a known family history of infertility or related genetic conditions.
Donor Sperm: For couples desiring children, donor sperm is a viable option.
Adoption: Adoption is another option for building a family.
MicroTESE: While rare, microTESE may yield sperm suitable for IVF/ICSI. Consider the possibility, as it may offer an opportunity for biological parenthood.