Amenorrhea differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Differentiating Diseases with Amenorrhea from each other

As amenorrhea manifests in a variety of clinical forms, differentiation must be established in accordance with the particular subtype. Primary amenorrhea must be differentiated from other diseases that cause lack of menstrual cycle, such as [differential dx1] and [differential dx2]. In contrast, secondary amenorrhea must be differentiated from other diseases that cause menstrual cycle arrest, such as [differential dx3] and [differential dx4].

Diseases	Laboratory Findings				Physical Examination				History and Symptoms				Other Findings
	Lab Test 1	Lab Test 2	Lab Test 3	Lab Test 4	Physical Finding 1	Physical Finding 2	Physical Finding 3	Physical Finding 4	Finding 1	Finding 2	Finding 3	Finding 4
Differential Diagnosis 1			+
Differential Diagnosis 2	↑			-
Differential Diagnosis 3		↓
Differential Diagnosis 4
Differential Diagnosis 5

• Physiologic

  • Pregnancy
  • Lactation
  • Menopause

• Hypothalamic

  • Structural

    • Craniopharyngioma
    • Lymphoma
    • Sarcoidosis
    • Hemochromatosis

  • Functional

    • Anorexia/bulimia
    • Excessive exercise/weight loss
    • Stress

• Pituitary

  • Secretory tumors

    • Prolactinoma
    • Cushing’s disease
    • Acromegaly

  • Destructive lesions

    • Non-functional tumors
    • Sheehan's syndrome
    • Hemochromatosis

• Ovarian

  • Premature ovarian failure
  • Hyperandrogenic disorders

    • Polycystic ovary syndrome (PCOS)
    • Nonclassical congenital adrenal hyperplasia (NCCAH)
    • Adrenal/ovarian androgen-secreting tumors

• Anatomic

  • Destruction of uterine cavity

    • Asherman’s syndrome
    • Tuberculosis (TB)

• Other

  • Hyperthyroidism/hypothyroidism
  • Cushing’s syndrome

Diseases that cause primary amenorrhea in females:

Disease name	Cause	Differentiating
		Findings	Uterus	Breast development	Testosterone	LH	FSH	Karyotyping
3-beta-hydroxysteroid dehydrogenase type 2 deficiency	HSD3B2 gene mutation	Undervirilization in 46,XY individuals due to a block in testosterone biosynthesis Mild virilization in 46,XX individuals	Yes in female	Yes in female	Low	Normal	Normal	XY and XX
17-alpha-hydroxylase deficiency	CYP17A1 gene mutation	Female external genitalia Primary amenorrhea Hypertension Absence of secondary sexual characteristics Minimal body hair	No	No	Low	Normal	Normal	XY
Gonadal dysgenesis	Mutations: SRY FOG2/ZFPM2 WNT1	Female external genitalia Intact Mullerian ducts Streak gonads karyotyping	Yes	Yes	Low	High	High	XY
Testicular regression syndrome	Loss of testicular function and tissue early in development	Female phenotype with atrophic Mullerian ducts	No	No	Low	High	High	XY
LH receptor defects	LH receptor gene mutation on chromosome 2	Female external genitalia Lack a uterus and fallopian tubes Epididymis and vas deferens may be present Laboratory: Unresponsiveness to hCG Normal levels of testosterone precursors (produced in the adrenal glands)	No	No	Low	High	High	XY
5-alpha-reductase type 2 deficiency	Autosomal recessive	Female external genitalia or ambiguous Bilateral testes and normal testosterone formation Impaired external virilization during embryogenesis Defective conversion of testosterone to DHT Testosterone to DHT ratio is >10:1	No	No	Normal male range	High to normal	High to normal	XY
Androgen insensitivity syndrome	Androgen receptor defect	Female external genitalia Resistant to testosterone	No	Yes	Normal male range	Normal	Normal	XY
Mullerian agenesis	Mutations in WNT4	Normal female genitalia Normal breast development	No	Yes	Normal female range	Normal	Normal	XX
Primary ovarian insufficiency	Genetic defects such as turner syndrome, fragile X syndrome, and other chromosomal defects	Normal female genitalia	Yes	Yes	Normal female range	High	High	XX
Hypogonadotropic hypogonadism	Functional, sellar masses	Normal female genitalia, Delayed puberty	Yes	No	Normal female range	Low	Normal	XX
Turner syndrome	Chromosomal	Female external genitalia	Yes	Yes	Normal female range	High	High	45 XO

References

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