Patterns:

• Endocrine and metabolic abnormalities in myotonic dystrophy type 1 (DM1) are well documented.

• Hyperinsulinemia following glucose ingestion show glucose and glycated hemoglobin (HbA1c) values typical of prediabetes or impaired glucose tolerance.

• Increased incidence of thyroid, parathyroid and gonadal dysfunction, along with abnormal blood levels of some adrenal hormones.

• Gonadal insufficiency contributes to problems of erectile dysfunction, infertility, and diminished ovarian reserve.

• Women may experience reduced fertility, spontaneous abortion and stillbirth, and they may have a somewhat higher rate of excessively painful and irregular menstruations than the general population.

Symptoms:

• Painful or irregular menses.

• Erectile dysfunction.

Diagnosis:

• Discuss the following tests with your doctor:

  • Liver enzymes and bilirubin levels.

  • Thyroid function - TSH and free T4 levels.

  • Hyperlipidemia.

  • Reproductive and fertility/infertility history - irregular menses; ovarian cysts; endometriosis.

Treatment:

• Refer to OB-GYN specialist as appropriate.

• Family planning.

• Refer to genetic counselor or other specialists as indicated.

• Minoxidil (Rogaine) for hair loss.

• Lifestyle changes in diet and exercise and appropriate use of medications to normalize blood glucose and insulin levels for treatment of insulin resistance.

• Consider possible cardiovascular side-effects with some erectile dysfunction medications.