Endocrine

Endocrine System – DM1

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.

Endocrine System – DM2

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.

Endocrine System – CDM

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.