Endocrine System

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.

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