Amenorrhea, primary (Amenorrhea)

Primary Amenorrhea – Treatment Overview

Introduction
Primary amenorrhea is defined as the absence of menarche by:

• Age 15 in girls with normal secondary sexual characteristics, or

• Age 13 in girls without secondary sexual characteristics.

It is a clinical sign, not a disease, and may result from genetic, anatomic, endocrine, or systemic causes. Early evaluation is essential to detect underlying disorders, guide treatment, and prevent complications such as infertility, osteoporosis, or psychosocial stress.

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General Diagnostic Approach (before treatment)

1. Exclude pregnancy.

2. Assess secondary sexual characteristics (breast development, pubic/axillary hair).

3. Initial labs: FSH, LH, estradiol, prolactin, TSH, karyotype (if indicated).

4. Pelvic ultrasound or MRI to evaluate uterus and ovaries.

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Treatment Options (Cause-Specific)

1. Gonadal Dysgenesis (e.g., Turner Syndrome, 45,XO)

• Hormone replacement therapy (HRT):

  • Estrogen (low-dose, gradually increased) to induce puberty.

  • Later add cyclic progestin to establish withdrawal bleeding and protect endometrium.

• Fertility: Assisted reproductive technologies with donor oocytes may be required.

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2. Hypothalamic or Pituitary Disorders

• Functional hypothalamic amenorrhea (stress, weight loss, excessive exercise):

  • Nutritional rehabilitation, weight optimization, stress reduction.

  • Estrogen-progestin therapy if persistent hypoestrogenism to protect bone health.

• Prolactinoma (hyperprolactinemia):

  • Cabergoline 0.25–1 mg twice weekly or Bromocriptine 2.5 mg orally 2–3 times daily.

• Pituitary failure: Replacement therapy (thyroxine, hydrocortisone, estrogen/progestin, as needed).

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3. Anatomic Abnormalities

• Müllerian agenesis (MRKH syndrome):

  • Normal secondary sexual characteristics but absent uterus.

  • Vaginal dilation or reconstructive surgery for sexual function.

  • Fertility possible with assisted reproduction using a surrogate.

• Outflow obstruction (imperforate hymen, transverse vaginal septum):

  • Surgical correction (e.g., hymenectomy, septum resection).

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4. Ovarian Causes (Primary Ovarian Insufficiency in Adolescents)

• HRT with estrogen + progestin until the average age of menopause to support bone and cardiovascular health.

• Fertility options: Egg donation.

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5. Thyroid or Systemic Disorders

• Hypothyroidism: Levothyroxine (starting ~1.6 mcg/kg/day).

• Hyperthyroidism: Antithyroid therapy (e.g., methimazole 10–30 mg/day).

• Chronic illnesses (e.g., celiac disease, inflammatory conditions): Treat underlying disease.

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Supportive Care

• Calcium + Vitamin D to prevent osteoporosis.

• Psychological support and counseling for adolescents and families.

• Genetic counseling if hereditary disorders are identified.