Hypogonadism in Females
Hypogonadism in females is a condition characterized by insufficient production of sex hormones, primarily estrogen and progesterone, by the ovaries. It can result from primary ovarian failure or secondary causes affecting the hypothalamic-pituitary-ovarian axis.
Causes
- Primary Ovarian Failure:
- Ovariectomy: Surgical removal of one or both ovaries, leading to immediate loss of ovarian hormone production.
- Autoimmune Oophoritis: Autoimmune destruction of ovarian tissue, resulting in impaired hormone production.
- Chemotherapy or Radiation Therapy: Damage to ovarian follicles due to cytotoxic agents or radiation exposure.
- Turner's Syndrome: A chromosomal disorder (45,X) leading to streak gonads and ovarian insufficiency.
- Pure Ovarian Dysgenesis: Genetic defects causing underdeveloped or non-functional ovaries.
- Steroid Biosynthetic Deficiency: Disorders such as 17β-hydroxylase deficiency, disrupting steroidogenesis and ovarian function.
- Swyer Syndrome: A disorder in which individuals with a 46,XY karyotype have gonadal dysgenesis and non-functional gonads.
- Secondary Hypogonadism:
- Hypothalamic or Pituitary Dysfunction: Conditions such as Kallmann syndrome, functional hypothalamic amenorrhea, or pituitary tumours.
- Chronic Systemic Illness: Chronic diseases like diabetes or celiac disease that disrupt normal endocrine function.
- Hyperprolactinemia: Excess prolactin secretion suppresses gonadotropin-releasing hormone (GnRH).
Clinical Features
- Delayed or absent puberty in adolescents (e.g., lack of breast development).
- Oligomenorrhea or amenorrhea in adults.
- Infertility due to anovulation.
- Low bone mineral density or osteoporosis from prolonged estrogen deficiency.
- Hot flashes, vaginal dryness, and reduced libido in adult-onset hypogonadism.
Investigations
- Blood Tests:
- Hormones: Serum FSH, LH, estradiol, and prolactin levels.
- Karyotyping: To identify chromosomal abnormalities like Turner's or Swyer syndrome.
- Imaging:
- Pelvic Ultrasound: Assess ovarian size and morphology.
- Brain MRI: Evaluate the hypothalamus and pituitary for secondary causes.
Management
- Hormone Replacement Therapy (HRT):
- Estrogen therapy to address symptoms of estrogen deficiency, support bone health, and induce secondary sexual characteristics.
- Progesterone is added in women with an intact uterus to prevent endometrial hyperplasia.
- Fertility Treatment:
- Gonadotropin therapy or assisted reproductive techniques for women seeking pregnancy.
- Addressing Underlying Causes:
- Treat autoimmune conditions or endocrine disorders contributing to hypogonadism.
- Bone Health:
- Calcium and vitamin D supplementation.
- Bisphosphonates for osteoporosis, if indicated.
References