Skip to content
  • About
  • Contact
  • Contribute
  • Book
  • Careers
  • Podcast
  • Recommended
  • Speaking
  • All
  • Physician
  • Practice
  • Policy
  • Finance
  • Conditions
  • .edu
  • Patient
  • Meds
  • Tech
  • Social
  • Video
    • All
    • Physician
    • Practice
    • Policy
    • Finance
    • Conditions
    • .edu
    • Patient
    • Meds
    • Tech
    • Social
    • Video
    • About
    • Contact
    • Contribute
    • Book
    • Careers
    • Podcast
    • Recommended
    • Speaking

MKSAP: 34-year-old man with fatigue, low libido, and infertility

mksap
Conditions
December 17, 2016
Share
Tweet
Share

Test your medicine knowledge with the MKSAP challenge, in partnership with the American College of Physicians.

A 34-year-old man is evaluated for a 2-year history of fatigue, low libido, and infertility. His family history is notable for a brother with infertility. His medical history is unremarkable, and he takes no medications.

On physical examination, vital signs are normal. His height is 195.6 cm (77 in), and his weight is 86.2 kg (190 lb). Genital examination reveals small, firm testes bilaterally.

Laboratory studies reveal a morning serum total testosterone level of 140 ng/dL (4.9 nmol/L) (which was confirmed on repeat testing), a serum follicle-stimulating hormone level of 24 mU/mL (24 U/L), and a serum luteinizing hormone level of 18 mU/mL (18 U/L). Repeated semen analyses reveal azoospermia.

Which of the following is the most appropriate diagnostic test to perform next?

A: Karyotype
B: MRI of the pituitary
C: Scrotal ultrasound
D: Serum prolactin measurement

MKSAP Answer and Critique

The correct answer is A: Karyotype.

The most appropriate diagnostic test to perform next is a karyotype. This patient has evidence of hypergonadotropic hypogonadism based on elevated gonadotropin levels and low testosterone level. Klinefelter syndrome is a common cause of hypergonadotropic hypogonadism and azoospermia, resulting in infertility. A 47,XXY karyotype is diagnostic of Klinefelter syndrome. Mosaic variants of this condition exist but typically present with oligoasthenospermia, testicular failure, or hypogonadism. Concomitant symptoms often include sexual dysfunction and generalized fatigue. Tall stature is a common finding. Patients with Klinefelter syndrome may fail to achieve puberty or may present after sexual maturation with azoospermia. Fertility may be achieved from ejaculated sperm, if present, or extracted testicular sperm; however, advanced reproductive techniques such as in vitro fertilization and intracytoplasmic sperm injection are necessary to achieve pregnancy. Some couples may opt to include genetic testing by preimplantation genetic diagnosis and embryo biopsy to avoid transmission of the disorder to subsequent generations. Typically, gonadotropin levels are high in patients with Klinefelter syndrome, representing testicular hypofunction. After plans for conception are completed, supplementation with exogenous androgens may be considered to prevent osteoporosis.

Conception with donor sperm is an alternative fertility treatment option.

MRI of the pituitary would be needed only to rule out a pituitary mass in the setting of hypogonadotropic hypogonadism. Because this patient’s gonadotropin levels are high, a pituitary mass is unlikely.

Scrotal ultrasound would identify small testicles in a patient with suspected Klinefelter syndrome, but it would not identify the cause of this patient’s elevated gonadotropin levels.

Serum prolactin level would likely be normal, as Klinefelter syndrome is characterized by primary hypogonadism with normal prolactin levels. Therefore, measurement of serum prolactin is not the most useful test for this patient.

Key Point

ADVERTISEMENT

  • Klinefelter syndrome is a common cause of hypergonadotropic hypogonadism and azoospermia.

This content is excerpted from MKSAP 17 with permission from the American College of Physicians (ACP). Use is restricted in the same manner as that defined in the MKSAP 16 Digital license agreement. This material should never be used as a substitute for clinical judgment and does not represent an official position of ACP. All content is licensed to KevinMD.com on an “AS IS” basis without any warranty of any nature. The publisher, ACP, shall not be liable for any damage or loss of any kind arising out of or resulting from use of content, regardless of whether such liability is based in tort, contract or otherwise.

Prev

Hurting medical students healing hurting patients

December 16, 2016 Kevin 13
…
Next

We need to speed up our acceptance of the opioid guidelines

December 17, 2016 Kevin 8
…

Tagged as: Endocrinology

Post navigation

< Previous Post
Hurting medical students healing hurting patients
Next Post >
We need to speed up our acceptance of the opioid guidelines

ADVERTISEMENT

ADVERTISEMENT

ADVERTISEMENT

More by mksap

  • a desk with keyboard and ipad with the kevinmd logo

    MKSAP: 26-year-old man with back pain

    mksap
  • a desk with keyboard and ipad with the kevinmd logo

    MKSAP: 36-year-old man with abdominal cramping, diarrhea, malaise, and nausea

    mksap
  • a desk with keyboard and ipad with the kevinmd logo

    MKSAP: 52-year-old woman with osteoarthritis of the right hip

    mksap

Related Posts

  • a desk with keyboard and ipad with the kevinmd logo

    MKSAP: 35-year-old woman with constipation

    mksap
  • a desk with keyboard and ipad with the kevinmd logo

    MKSAP: 60-year-old woman with persistent constipation

    mksap
  • a desk with keyboard and ipad with the kevinmd logo

    MKSAP: 45-year-old woman with type 2 diabetes mellitus

    mksap
  • The hidden costs of fully covered infertility treatment 

    Stephanie E. Moss
  • Qualifying conditions for medical marijuana

    Patricia Frye
  • Settlements in the opioid cases need these non-negotiable conditions

    Rosanne Aulino, RN

More in Conditions

  • Venous leak syndrome: a silent challenge faced by all men

    Elliot Justin, MD
  • Make cognitive testing as routine as a blood pressure check

    Joshua Baker and James Jackson, PsyD
  • Reimagining diabetes care with nutrition, not prescriptions

    William Hsu, MD
  • A speech pathologist’s key to better, safer patient care

    Adena Dacy, CCC-SLP
  • How collaboration saved my life from a rare disease doctors couldn’t diagnose

    Tami Burdick
  • Why your emotions are your greatest compass in therapy and life

    Maire Daugharty, MD
  • Most Popular

  • Past Week

    • What’s driving medical students away from primary care?

      ​​Vineeth Amba, MPH, Archita Goyal, and Wayne Altman, MD | Education
    • Make cognitive testing as routine as a blood pressure check

      Joshua Baker and James Jackson, PsyD | Conditions
    • A faster path to becoming a doctor is possible—here’s how

      Ankit Jain | Education
    • A world without antidepressants: What could possibly go wrong?

      Tomi Mitchell, MD | Meds
    • Conflicts of interest are eroding trust in U.S. health agencies

      Martha Rosenberg | Policy
    • Precision and personalization: Charting the future of cancer care [PODCAST]

      The Podcast by KevinMD | Podcast
  • Past 6 Months

    • What’s driving medical students away from primary care?

      ​​Vineeth Amba, MPH, Archita Goyal, and Wayne Altman, MD | Education
    • Internal Medicine 2025: inspiration at the annual meeting

      American College of Physicians | Physician
    • The silent crisis hurting pain patients and their doctors

      Kayvan Haddadan, MD | Physician
    • What happened to real care in health care?

      Christopher H. Foster, PhD, MPA | Policy
    • Are quotas a solution to physician shortages?

      Jacob Murphy | Education
    • The hidden bias in how we treat chronic pain

      Richard A. Lawhern, PhD | Meds
  • Recent Posts

    • Precision and personalization: Charting the future of cancer care [PODCAST]

      The Podcast by KevinMD | Podcast
    • Expert Q&A: Dr. Jared Pelo, ambient clinical pioneer, explains how Dragon Copilot helps clinicians deliver better care

      Jared Pelo, MD & Microsoft & Nuance Communications | Sponsored
    • The lab behind the lens: Equity begins with diagnosis

      Michael Misialek, MD | Policy
    • Venous leak syndrome: a silent challenge faced by all men

      Elliot Justin, MD | Conditions
    • Rethinking patient payments: Why billing is the new frontline of patient care [PODCAST]

      The Podcast by KevinMD | Podcast
    • The dreaded question: Do you have boys or girls?

      Pamela Adelstein, MD | Physician

Subscribe to KevinMD and never miss a story!

Get free updates delivered free to your inbox.


Find jobs at
Careers by KevinMD.com

Search thousands of physician, PA, NP, and CRNA jobs now.

Learn more

Leave a Comment

Founded in 2004 by Kevin Pho, MD, KevinMD.com is the web’s leading platform where physicians, advanced practitioners, nurses, medical students, and patients share their insight and tell their stories.

Social

  • Like on Facebook
  • Follow on Twitter
  • Connect on Linkedin
  • Subscribe on Youtube
  • Instagram

ADVERTISEMENT

ADVERTISEMENT

ADVERTISEMENT

ADVERTISEMENT

  • Most Popular

  • Past Week

    • What’s driving medical students away from primary care?

      ​​Vineeth Amba, MPH, Archita Goyal, and Wayne Altman, MD | Education
    • Make cognitive testing as routine as a blood pressure check

      Joshua Baker and James Jackson, PsyD | Conditions
    • A faster path to becoming a doctor is possible—here’s how

      Ankit Jain | Education
    • A world without antidepressants: What could possibly go wrong?

      Tomi Mitchell, MD | Meds
    • Conflicts of interest are eroding trust in U.S. health agencies

      Martha Rosenberg | Policy
    • Precision and personalization: Charting the future of cancer care [PODCAST]

      The Podcast by KevinMD | Podcast
  • Past 6 Months

    • What’s driving medical students away from primary care?

      ​​Vineeth Amba, MPH, Archita Goyal, and Wayne Altman, MD | Education
    • Internal Medicine 2025: inspiration at the annual meeting

      American College of Physicians | Physician
    • The silent crisis hurting pain patients and their doctors

      Kayvan Haddadan, MD | Physician
    • What happened to real care in health care?

      Christopher H. Foster, PhD, MPA | Policy
    • Are quotas a solution to physician shortages?

      Jacob Murphy | Education
    • The hidden bias in how we treat chronic pain

      Richard A. Lawhern, PhD | Meds
  • Recent Posts

    • Precision and personalization: Charting the future of cancer care [PODCAST]

      The Podcast by KevinMD | Podcast
    • Expert Q&A: Dr. Jared Pelo, ambient clinical pioneer, explains how Dragon Copilot helps clinicians deliver better care

      Jared Pelo, MD & Microsoft & Nuance Communications | Sponsored
    • The lab behind the lens: Equity begins with diagnosis

      Michael Misialek, MD | Policy
    • Venous leak syndrome: a silent challenge faced by all men

      Elliot Justin, MD | Conditions
    • Rethinking patient payments: Why billing is the new frontline of patient care [PODCAST]

      The Podcast by KevinMD | Podcast
    • The dreaded question: Do you have boys or girls?

      Pamela Adelstein, MD | Physician

MedPage Today Professional

An Everyday Health Property Medpage Today
  • Terms of Use | Disclaimer
  • Privacy Policy
  • DMCA Policy
All Content © KevinMD, LLC
Site by Outthink Group

Leave a Comment

Comments are moderated before they are published. Please read the comment policy.

Loading Comments...