Savage syndrome
Savage syndrome, also known as resistant ovary syndrome, is a rare disorder characterized by the failure of the ovaries to respond to follicle-stimulating hormone (FSH) despite the presence of normal or elevated levels of FSH in the bloodstream. This condition leads to primary ovarian insufficiency (POI) and is a cause of infertility in affected women.
Pathophysiology[edit | edit source]
The underlying mechanism of Savage syndrome involves a defect in the ovarian receptors for FSH. Despite the presence of normal or elevated levels of FSH, the ovaries are unable to respond appropriately, leading to anovulation and amenorrhea. The exact cause of the receptor defect is not well understood, but it is believed to be due to genetic mutations or autoimmune factors.
Clinical Presentation[edit | edit source]
Women with Savage syndrome typically present with symptoms of primary ovarian insufficiency, including:
- Amenorrhea (absence of menstrual periods)
- Infertility
- Hot flashes
- Vaginal dryness
- Osteoporosis due to low estrogen levels
Diagnosis[edit | edit source]
The diagnosis of Savage syndrome is based on clinical evaluation, laboratory tests, and imaging studies. Key diagnostic criteria include:
- Elevated levels of FSH in the blood
- Low levels of estrogen
- Normal karyotype (46,XX)
- Ovarian biopsy showing primordial follicles
Treatment[edit | edit source]
There is no cure for Savage syndrome, but treatment focuses on managing symptoms and improving quality of life. Options include:
- Hormone replacement therapy (HRT) to alleviate symptoms of estrogen deficiency
- In vitro fertilization (IVF) with donor eggs for women seeking to conceive
- Calcium and vitamin D supplements to prevent osteoporosis
Prognosis[edit | edit source]
The prognosis for women with Savage syndrome varies. While hormone replacement therapy can manage symptoms, fertility options are limited to assisted reproductive technologies such as IVF with donor eggs.
See Also[edit | edit source]
- Primary ovarian insufficiency
- Follicle-stimulating hormone
- Amenorrhea
- Infertility
- Hormone replacement therapy
References[edit | edit source]
External Links[edit | edit source]
Savage syndrome Resources | |
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Contributors: Prab R. Tumpati, MD