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.

Patterns:

• The same frequency of type 1 or type 2 diabetes is present as compared to the age-matched, general population, but more studies are necessary to establish the accuracy of this impression.

• DM2 may lead to alterations in the regulation of thyroid, adrenal and gonadal hormone levels.

• Hypothyroidism exacerbates DM2.

• Some reported trouble with sexual function.

• Elevation of liver enzymes.

Symptoms:

• Fluctuating levels of pain and fatigue.

• Muscle weakness and irregular muscle stiffness.

• Painful or irregular menses.

• Signs/symptoms of hypothyroidism/hyperthyroidism.

Diagnosis:

• Discuss the following tests with your doctor:

  • Thyroid function - TSH and free T4 levels.

  • Liver enzymes and bilirubin levels.

  • Hyperlipidemia via testing for levels of serum lipids.

  • Sex hormones in females, glucose levels, HbA1c, PTH, Vitamin D.

Treatment:

• Refer to OB-GYN specialist as appropriate.

• Lifestyle changes in diet and exercise.

• Appropriate use of medications to normalize blood glucose and insulin levels for treatment of insulin resistance.

• Statins if needed because of an increased cardiovascular risk.

Patterns:

• Endocrinological manifestations of the disease are well described in adults with DM1, but have rarely been rarely reported in children.

• Reports describing the presence of thyroid dysfunction in childhood exist, but not very common.

Symptoms:

• Insulin resistance.

• Hypothyroidism.

• Hyperparathyroidism.

• Other adult-onset endocrine and metabolic symptoms as they age.

• Loss of menstrual periods or cramps and pain with menstruation.

• Erectile dysfunction in males.

Diagnosis:

• Discuss the following tests with your doctor:

  • Detailed physical exam to review complications of the reproductive system.

  • Thyroid stimulating hormone (TSH) and Free T4 level.

  • Fasting blood lipids, plasma glucose, liver enzymes, bilirubin levels.