ABC Medical Center > Diseases > Klinefelter syndrome

What is klinefelter syndrome?

4 May 2021

It is a genetic anomaly that affects males, caused by the presence of an extra X chromosome, hindering sexual development and fertility, which is not usually diagnosed early, but until adulthood.

By affecting the development of the testicles, they are small, causing low levels of testosterone, precarious muscles, lack of facial hair, and enlarged breasts.

Similarly, those affected do not usually have sperm or at least not in sufficient quantities for fertilization, so they are sterile.

Signs and symptoms Klinefelter syndrome

There is a variable range of symptoms, in which there are almost no signs or there are significant ones, so, many times, the diagnosis is usually made until the patient is an adult, or in the case of no obvious symptoms and clear disorders, may never be diagnosed.

The symptoms according to age are as follows:

Babies:

  • Difficulty learning to walk.
  • Trouble speaking.
  • Testicles without scrotal descent.
  • Little muscle tone.
  • Slow growth.

Childhood and adolescence:

  • Absence or delay of puberty.
  • Weak muscles.
  • Hairless skin.
  • Reduced testicular size.
  • Higher than normal height.
  • Greater length in the legs.
  • Short chest.
  • Wide hips.
  • Short penis length.
  • Gynecomastia (breast enlargement).
  • Bone fragility.
  • Weakness.

Adulthood:

  • Little muscle mass.
  • Enlarged breasts.
  • Abdominal fat accumulation.
  • Non-existent or low sperm count.
  • Reduced testicles and penis.
  • Lack of sexual desire.
  • Higher than normal height.
  • Osteoporosis.
  • Hairless skin.

Possible complications of Klinefelter syndrome are:

  • Sexual dysfunction.
  • Sterility.
  • Osteoporosis.
  • Cardiovascular and pulmonary diseases.
  • Breast cancer.
  • Type 2 diabetes.
  • Hypertension.
  • Hyperlipidemia.
  • Lupus.
  • Arthritis.
  • Dental problems.
  • Depressive episodes.
  • Stress and anxiety.
  • Low self-esteem.
  • Antisocial behavior.

Diagnosis and treatment Klinefelter syndrome

Once your doctor analyzes your symptoms and clinical history, they will perform an exhaustive physical examination with emphasis on the genitals and breasts, they will request blood and urine tests to verify hormonal and chromosomal anomalies to make an accurate diagnosis.

Once the diagnosis is confirmed, you will receive treatment from a multidisciplinary team that includes an endocrinologist, physical therapist, and psychologist, among other specialists.

Likewise, the treatment will also seek to minimize the symptoms and slightly reverse the most obvious physical signs, so permanent testosterone therapy will be established, as well as psychological support. Breasts can also be made smaller through surgery.

At the Saludora Medical Center Internal Medicine Department we offer health care services with the highest quality and safety, from prevention, diagnosis, timely treatment, and monitoring of infectious, respiratory, endocrinological, dermatological, rheumatic, nephrological, gastrointestinal, and hematological pathologies, of chronic-degenerative diseases and acute conditions, through a comprehensive and multidisciplinary model.

Related centers and departments Klinefelter syndrome

Internal medicine
High Specialty Surgery Center
Radiology and Molecular Imaging
Clinical Laboratory

Fuentes:

  • medlineplus.gov
  • mayoclinic.org
  • msdmanuals.com
  • aeped.es
  • topdoctors.es
  • medigraphic.com
  • Espino GD, Sariol CY, Domínguez YMC. Síndrome de Klinefelter. A propósito de un caso. Mul Med. 2018;22(1):211-216.
  • Cumming-Martínez A, Manzanilla-García HA, Venegas-Vega C, et al. Orquiectomía parcial en un paciente con tumor de células de Leydig asociado con síndrome de Klinefelter. Rev Mex Urol. 2017;77(4):296-301.
  • Herrera LMG, Rosales CRF, Padilla RN, et al. Cáncer de mama en el hombre y factores socioculturales. Waxapa. 2015;7(13):39-42.
  • Lasprilla-Tovar JD, Henao-Ochoa C, Alfaro-Velásquez JM, et al. Utilidad clínica de la medición de la hormona antimülleriana en niños. Medicina & Laboratorio. 2017;23(07-08):311-330.

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