Amenorrhea differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Eiman Ghaffarpasand, M.D. [2], Mehrian Jafarizade, M.D [3]

Overview

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 Mullerian agenesis, 3-beta-hydroxysteroid dehydrogenase type 2 deficiency, androgen insensitivity syndrome, Kallmann syndrome, Turner syndrome, and 17-alpha-hydroxylase deficiency. In contrast, secondary amenorrhea must be differentiated from other diseases that cause menstrual cycle arrest, such as primary ovarian insufficiency, hypothyroidism, hyperprolactinemia, polycystic ovary syndrome, and Asherman's syndrome.

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 Mullerian agenesis, 3-beta-hydroxysteroid dehydrogenase type 2 deficiency, androgen insensitivity syndrome, Kallmann syndrome, Turner syndrome, and 17-alpha-hydroxylase deficiency. In contrast, secondary amenorrhea must be differentiated from other diseases that cause menstrual cycle arrest, such as primary ovarian insufficiency, hypothyroidism, hyperprolactinemia, polycystic ovary syndrome, and Asherman's syndrome.

Group Diseases Laboratory Findings Physical Examination Other Findings
Estrogen Progesterone GnRH LH FSH Androgen TSH T4 PRL Karyotype Externl genitalia Breast development Pubic hair Uterus
Primary amenorrhea Mullerian agenesis[1] Nl Nl Nl Nl Nl Nl Nl Nl Nl 46 XX Nl + + -
3-beta-hydroxysteroid dehydrogenase type 2 deficiency Nl Nl Nl Nl Nl Nl Nl Nl 46 XX Clitoromegaly -/+ + +
Androgen insensitivity syndrome[2] Nl Nl Nl ↑↑ Nl Nl Nl 46 XY Nl + + -
Kallmann syndrome[3] ↓↓ Nl Nl Nl 46 XX Nl - - +
Turner syndrome[4] ↓↓ Nl Nl Nl Nl 45 XO Nl +/- + +
17-alpha-hydroxylase deficiency Nl Nl Nl Nl 46 XY Infantilism - - -
Secondary amenorrhea Primary ovarian insufficiency[5] ↓↓ Nl Nl Nl Nl 46 XX Nl + + +
Hypothyroidism[6] Nl Nl Nl Nl Nl ↑↑ ↓↓ Nl 46 XX Nl + + +
Hyperprolactinemia[7] Nl Nl 46 XX Nl + + +
Polycystic ovary syndrome[8] ↓↓ ↓↓ Nl Nl Nl 46 XX Nl + + +
Asherman's syndrome[9] Nl Nl Nl Nl Nl Nl Nl Nl Nl 46 XX Nl + + +

References

  1. Folch M, Pigem I, Konje JC (2000). "Müllerian agenesis: etiology, diagnosis, and management". Obstet Gynecol Surv. 55 (10): 644–9. PMID 11023205.
  2. "Current evaluation of amenorrhea". Fertil. Steril. 82 (1): 266–72. 2004. doi:10.1016/j.fertnstert.2004.02.098. PMID 15237040.
  3. Albanese A, Stanhope R (1995). "Investigation of delayed puberty". Clin. Endocrinol. (Oxf). 43 (1): 105–10. PMID 7641400.
  4. Sybert VP, McCauley E (2004). "Turner's syndrome". N. Engl. J. Med. 351 (12): 1227–38. doi:10.1056/NEJMra030360. PMID 15371580.
  5. Nelson LM (2009). "Clinical practice. Primary ovarian insufficiency". N. Engl. J. Med. 360 (6): 606–14. doi:10.1056/NEJMcp0808697. PMC 2762081. PMID 19196677.
  6. Kalro BN (2003). "Impaired fertility caused by endocrine dysfunction in women". Endocrinol. Metab. Clin. North Am. 32 (3): 573–92. PMID 14575026.
  7. Pickett CA (2003). "Diagnosis and management of pituitary tumors: recent advances". Prim. Care. 30 (4): 765–89. PMID 15024895.
  8. "ACOG practice bulletin clinical management guidelines for obstetrician-gynecologists. Number 40, November 2002". Obstet Gynecol. 100 (5 Pt 1): 1045–50. 2002. PMID 12434783.
  9. Fritz, Marc (2011). Clinical gynecologic endocrinology and infertility. Philadelphia: Wolters Kluwer Health/Lippincott Williams & Wilkins. ISBN 978-0781779685.

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