Turner’s Syndrome 

What Is Turner Syndrome?

[dropcap]T[/dropcap]urner syndrome is a sex chromosome abnormality in females characterized by failure of the ovaries to respond to pituitary hormone stimulation as a consequence of having complete or partial absence of the two sex (X) chromosomes.

Q: How does Turner syndrome affect the body?

A: Immature ovaries result in amenorrhea, or failure to menstruate, because puberty does not occur.

Turner syndrome is associated with various abnormalities and adults have a reduced life expectancy, mainly related to structural abnormalities of the heart and aorta and an increased risk of atherosclerosis.¹

What Is Turner Syndrome In Celiac Disease and/or Gluten Sensitivity?

• Relationship between Turner syndrome and celiac disease.  Turner syndrome is a reproductive disorder associated with celiac disease and may be an uncommon presenting feature of untreated celiac disease.
• Relationship between Turner syndrome and celiac diagnosis. Early diagnosis of celiac disease and treatment with a gluten-free diet makes it possible to initiate an appropriate hormonal treatment to achieve normal growth and to induce puberty.
• Relationship between Turner syndrome and autoimmune disease. Considering that the patients with Turner syndrome have a high prevalence of autoimmune disease, an early investigation for celiac disease should be carried out in those with Turner syndrome.²

How Prevalent Is Turner Syndrome In Celiac Disease and/or Gluten Sensitivity?

• A study of 389 Turner syndrome patients demonstrated a high prevalence of celiac disease. Ten patients showed classic celiac disease, 8 showed atypical symptoms, and 7 showed a silent celiac disease.³
• In a study of 2459 people with Turner syndrome, the rate was 14% for celiac disease.⁴

What Are The Symptoms Of Turner Syndrome?

Turner syndrome is marked by these symptoms:

• Amenorrhea and sterility with these physical features:  loss of taste, hearing loss, low set ears, low hairline, usually short stature, and web neck in about one third of affected individuals.
• Heart abnormalities include bicuspid aortic valve, coarctation of the aorta, elongation of the transverse aortic arch, dilation of the aorta, and hypertension.
• Bone abnormalities include osteoporosis and osteopenia.
• Other abnormalities include renal, thyroid, glucose intolerance, and dyslipidemia.

How Does Turner Syndrome Develop In Celiac Disease and/or Gluten Sensitivity?

• Turner syndrome results from abnormality of the X chromosome at conception. Normally, a female receives two X chromosomes at conception: one from the mother and one from the father. In monosomy, the term applied when abnormal cells have only one X chromosome, the missing X chromosome is due to faulty sperm.

Does Turner Syndrome Respond To Gluten-Free Diet?

Gluten free diet cannot reverse Turner syndrome but will improve the well-being of affected individuals along with estrogen replacement therapy.⁵,⁶

6 Steps To Improve Turner Syndrome In Celiac Disease and/or Gluten Sensitivity:

• [dropcap]1[/dropcap]Remove the Trigger. Maintain a Strict, Nutritious Gluten Free Diet:

[box type=”shadow” ]Treatment. This condition responds to the complete elimination of gluten, which is the required treatment that improves both Turner syndrome and gut health.

• Gut health is the foundation to restore ALL health. Restored health will enable you to maintain a strict gluten free diet, just as other life tasks will be easier.
• A strict gluten free diet means removing 100% of wheat, barley, rye and oats from the diet.
• Cutting out bread and other obvious sources of gluten is not good enough for recovery. Even 1/8th teaspoon of flour or bread crumb is enough to sustain the inflammation that is damaging your small intestine, causing increased permeability (leaky gut) and allowing undigested gluten to enter your body where it can damage structures and function, and instigate immune inflammatory responses.

Correct Your Individual Nutritional Needs.

• Eat foods that can replenish missing nutrients. Find them under NUTRIENT DEFICIENCIES.
• Take nutritional supplements as needed. Find them under NUTRIENT DEFICIENCIES.

Recovery. You should begin to feel better within a week and notice more energy as inflammation subsides and the  absorbing cells that make up the surface lining of your small intestine are better able to function.

• Intestinal lining cells are replaced every 5 days. The healing process is like sunburn where the damaged surface layer of skin sloughs off and is replaced with new normal cells.
• Leaky gut normally resolves in two month after starting a gluten free diet and brings about a big improvement in health. Improvement in intestinal permeability precedes morphometric recovery (cell appearance and structure) of the small intestine in celiac disease.⁷
• The intestinal lining may take up to a year to heal.[/box]

• [dropcap]2[/dropcap] Reduce Inflammation. Foods to Eat and Foods Not to Eat:

Because gluten is inflammatory, eliminate OTHER inflammatory foods from your diet to reduce an additive effect to gluten. At the same time, try to eat foods that reduce inflammation (anti-inflammatory).

[box type=”shadow” ]Here Are Major Inflammatory Food Types That Reduce Healing:

• Damaging Foods. In susceptible persons, includes corn, dairy (cow), and soy. Lactose, the sugar in any animal milk disrupts intestinal permeability causing leaky gut.⁸
• Allergenic Foods. Includes foods that trigger the immune sytem to produce IgE antibodies. Allergy testing is the usual way to discover these offending foods.
• Shelf Stable Processed Foods. Includes any that contain additives and preservatives. Look for them on the nutrition label of the box or package. Additives and preservatives also disrupt intestinal permeability causing leaky gut.⁸
• Fats. Limit deep fried foods, trans-fats, saturated fats (animal fat/butter), and EXCESSIVE omega-6 fatty acid oils like corn oil. Rancid fats, sodium caprate (a medium chain fat), and sucrose monester fatty acid (a food grade surfactant) induce significant disruption of the intestinal barrier that causes leaky gut.⁸.
• Excessive Refined White Flours (bran layer removed). Includes products made from them such as cookies, bread, cakes, pies. Bran contains the vitamins and minerals that metabolize grains and slows the otherwise rapid entry of sugar from their digestion into the bloodstream. Also disrupt intestinal permeability causing leaky gut.⁸
• Refined Sugars.  Includes white sugar, corn fructose and high fructose corn syrup.
• Certain Spices. Includes paprika and cayenne pepper which disrupt intestinal permeability causing leaky gut.⁸
• Alcohol and Caffeine. Disrupt intestinal permeability causing leaky gut.⁸[/box]

[box type=”shadow” ]Here Are Important Anti-Inflammatory Food Types to Promote Health:

• Fruits. Contain ample amounts of vitamins, minerals and phytochemicals which are naturally occuring components in plants that detoxify toxins, carcinogens (reducing the risk by 50%) and mutagens.
• Non-Starchy Vegetables. Support intestinal integrity and provide ample amounts of vitamins, minerals and phytochemicals. Includes green leafy vegetables such as lettuce and kale, also onion, broccoli, garlic, and others.
• High Quality Complex Carbohydrates. Provide vitamins, minerals, and fiber while boosting serotonin levels to help you relax and feel calm. Includes whole grains, legumes, and root vegetables such as carrots, parsnips, sweet potatoes, turnips, red beets, and others.
• Antioxidants. Protect the body from inflammatory oxidant molecules that continually occur and help us handle stress and reduce irritability. Includes vitamin C-containing foods such as lemon, grapefruit, apricot, Brussels sprouts and strawberries, and others. Also, includes vitamin E-containing foods such as nuts, seeds, avocado, olive oil, and others. Cocoa is good, too.
• Omega-3 Fatty Acids. Balance opposing omega-6 fatty acids and bad fats. Fish sources includes tuna, salmon, cod, and others. Plants sources include flax, chia seeds, canola oil, and others.
• Probiotics. Supply normal microbes needed for colon health and health of the body such as these fermented foods: yogurt, kefir, and unpasteurized apple cider vinegar.
• Prebiotics/ High Fiber Foods.  Food with fiber keeps our population of colonic microbes healthy.
• Protective Herbs and Spices.  See below #6 below for examples.[/box]

• [dropcap]3[/dropcap] Information Sheet You Can Take to Your Doctor or Other Health Professional:

Click here.

• [dropcap]4[/dropcap] Manage Your Medications Safely:

[box type=”shadow” ]Certain medications deplete zinc which can cause Turner syndrome at conception of an offspring. Ask your doctor or pharmacist about this possible adverse effect if you are taking any of the drugs listed below. Do not stop prescribed medications without supervision.

This is not a complete listing.

ANTACIDS / ULCER MEDICATIONS

• Pepcid®, Tagamet®, Zantac® deplete Zinc.
• Magnesium and Aluminum Antacid preparations (Gaviscon®, Maalox®, Mylanta®) deplete Zinc.

ANTIBIOTICS disrupt intestinal permeability which complicates celiac disease.

•  Tetracyclines deplete Zinc.
• Cipro depletes Zinc.

ANTI-INFLAMMATORIES disrupt intestinal permeability which complicates celiac disease.

• Corticosteroids (Prednisone, Medrol®, Aristocort®, Decadron) deplete Zinc.

ANTICONVULSANTS

• Phenobarbital and Barbituates; and Dilantin®, Tegretol®, Mysoline®, Depakane/Depacon® deplete Zinc.

ANTIVIRAL AGENTS

• Zidovudine (Retrovir®, AZT and other related drugs) deplete Zinc.

CARDIOVASCULAR DRUGS

• Antihypertensives (Catapres®, Aldomet) deplete Zinc.
• ACE Inhibitors (Capoten®, Vasotec®, Monopril® and others) deplete Zinc.

DIURETICS

• Thiazide Diuretics (Hydrochlorothiazide, Enduron®, Diuril®, Lozol®, Zaroxolyn®, Hygroton® and others) deplete Zinc.
• Loop Diuretics (Lasix®, Bumex®, Edecrin®) deplete Zinc.
• Potassium Sparing Diuretics (Midamor®, Aldactone®, Dyrenium® and others) deplete Zinc.

FEMALE HORMONES disrupt intestinal permeability which complicate celiac disease.

• Oral Contraceptives (Norinyl®, Ortho-Novum®, Triphasil®, and others) deplete Zinc.
• Oral Estrogen/Hormone Replacement (Evista®, Prempro®, Premarin®, Estratab® and others) deplete Zinc. [/box]

• [dropcap]5[/dropcap]Nutritional Supplements To Help Correct Deficiencies:

[box type=”shadow” ]

The type and quantity of nutritional supplements that may be needed depend on which nutrients are deficient.

• Multivitamin/mineral combination once a day is useful to improve overall nutrient levels. This is a safe dose, but always check with your doctor to avoid interactions with medications.
• Chelated zinc as prescribed but do not take at same time as calcium because they compete for absorption.

Storage Note: Store container tightly sealed, away from heat, moisture and direct light to avoid loss of potency. That is, in a safe kitchen cabinet – not in the bathroom or on the kitchen table.[/box]

• [dropcap]6[/dropcap]Manage Natural Remedies: 

[box type=”shadow” ]Hydration:

• Eight glasses of water are recommended per day unless there is a contraindication such as kidney or heart disease. The Institute of Medicine recommends approximately 2.7 liters (91 ounces) of total water, from all beverages and foods, each day for women and 3.7 liters (125 ounces) daily of total water for men.
• If you are thirsty, drink water. Add fresh, squeezed lemon to water. Lemon is anti-inflammatory, alkalizing and provides vitamin C.
• Hydration Test: Urine should be pale yellow. Fingertips should be plump, without pruning but this may not be reliable when fingers are swollen with edema. Lips should be plump, without puckering. The feeling of thirst can be unreliable.
• What is wrong with soda, coffee, tea, and alcohol? These drinks are dehydrating, increase acid, and deplete nutrients.[/box]

[box type=”shadow” ]Carminatives. The following  anti-inflammatory plant sources called carminitives help heal the digestive tract. They also tone the digestive muscles which improves peristalsis, thus aiding in the expulsion of gas from the stomach and intestine to relieve digestive colic and gastric discomfort.

Carminative Food Remedies:

• Raspberry.
• Carrot is also a cleansing digestive tonic.
• Grape is also bile stimulating and a cleansing remedy for sluggish digestion and laxative.
• Redbeets also stimulate and improve digestion and are easily digested.
• Cabbage also stimulates and improves digestion and is also a liver decongestant.
• Lettuce also stimulates and improves digestion and is also an alterative, meaning it improves the function of organs involved with the digestion and excretion of waste products to bring about a gradual change.
• Potatoes are antispasmodic (due to atropine like properties) and a liver remedy.

Carminative Herb Remedies:

• Sage is also a digestive, astringent, bile stimulant and energy tonic that heals the mucosa.  Drink as tea or use in cooking.
• Chamomile, lemon balm, and fennel, (as a tea) also help relieve nervous tension.
• Parsley also relieves indigestion.
• Rosemary as a tea and in cooking also is a nervous system tonic for stress and fatigue, bile stimulant, and can relieve headaches and indigestion.
• Thyme is also soothing remedy useful for stimulating digestion of rich, fatty foods.

Carminative Spice Remedies:

• Cloves are also antispasmodic.
• Nutmeg is also useful for indigestion.
• Ginger.[/box]

[box type=”shadow” ]Exercise Helps:

Exercise improves circulation and rids the body of toxins.

• Walking is aerobic exercise that reconditions the whole body to improve stamina. Read more about Exercise and Fitness.
• Weight training builds muscle. Read more about Exercise and Fitness.
• Stretching improves flexibilty. Read more about Exercise and Fitness.

Note: Exercise is important, but the amount and type of exercise undertaken depends on your health. Your first priority is to heal. [/box]

What Do Medical Research Studies Tell About Turner Syndrome In Celiac Disease and/or Gluten Sensitivity?

RESEARCH STUDY SUMMARIES

“Turner syndrome and autoimmune diseases: record-linkage study.” This national study investigated the elevated risk of a range of autoimmune disorders in Turner syndrome by use of a record-linked dataset of all hospital admissions in England, 1999-2011, to construct a retrospective cohort of people with Turner syndrome and a control cohort of people without it. Statistical follow-up was used to identify the occurrence of 29 separate autoimmune disorders in each cohort.

In the Turner syndrome cohort (2459 people), rate ratios were elevated for 16 of the 29 conditions. Examples included coeliac disease(rate ratio 14.0, 95% CI 10.2 to 18.8), Crohn’s disease (5.3, 3.5 to 7.8), ulcerative colitis (3.9, 2.3 to 6.1), hypothyroidism (8.8, 7.8 to 9.9) and hyperthyroidism (4.9, 3.2 to 7.1).⁹

“Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome. “ This observational study investigating the yield of an initial standardized multidisciplinary screening in 150 adult Turner syndrome patients found that standardized multidisciplinary evaluation of adult women with Turner syndrome as advocated by expert opinion is effective and identifies significant morbidity (disease). Girls with Turner syndrome benefit from a careful transition to ongoing adult medical care. All women were consulted by an endocrinologist, a gynecologist, a cardiologist, an otorhinolaryngologist, and when indicated, a psychologist. The screening included magnetic resonance imaging of the heart and aorta, echocardiography, electrocardiogram, dual-energy x-ray absorptiometry, renal ultrasound, audiogram, and laboratory investigations according to international expert recommendations.

Thirty percent of patients currently lacked medical follow-up, and 15% lacked estrogen replacement therapy in the recent last years. The following disorders were newly diagnosed: 13 with bicuspid aortic valve, 9 with coarctation of the aorta, 27 with elongation of the transverse aortic arch, 34 with dilation of the aorta, 8 with osteoporosis, 56 with osteopenia, 7 with renal abnormalities, 33 with subclinical hypothyroidism, 3 with celiac disease, 12 with glucose intolerance, 52 with dyslipidemia, 39 with hypertension, and 8 with hearing loss warranting a hearing aid. Psychological consultation was needed in 23 cases.¹⁰

“Prevalence and clinical picture of celiac disease in Turner syndrome.” This multicenter study of 389 Turner syndrome  patients investigating 1) the incidence of Celiac Disease and 2) the clinical characteristics and laboratory data of affected patients demonstrated a high prevalence of Celiac Disease in Turner syndrome patients. Ten patients showed classic Celiac Disease, 8 showed atypical symptoms, and 7 showed a silent Celiac Disease. Other autoimmune disorders were observed in 40% of the patients. The subclinical picture in 60% of the cases, the diagnostic delay, and the incidence of the other autoimmune disorders suggest that routine screening of Celiac Disease in Turner syndrome is indicated.¹¹

CASE REPORT SUMMARIES

“Celiac disease in patient with Turner syndrome.” This case report describes finding celiac disease in a 29-year-old female who was admitted to the hospital due to growth retardation and primary amenorrhea. On physical examination, no breast development or any other secondary sexual characteristics were prominent. The karyotype analysis revealed 45X0 consistent with Turner stigmata. She was consulted to the gastroenterology department in order to determine the cause of her anemia. She had no gastrointestinal complaints except for gastric discomfort after meals.

The laboratory findings revealed hypochromic microcytic anemia, hypocalcemia, hypophosphatemia, and elevated serum alkaline phosphatase levels. Serum 25-hydroxy vitamin D level was low (6.3 ng/ml) and accompanied by an elevated parathormone level of 223.6 pg/ml (normal range, 10–65 pg/ml). Transferrin saturation was 3.42 and the serum folate level was under the normal limits (2.7 ng/ml). High levels of antigliadin immunoglobulin (Ig)A and IgG and antiendomysial IgA antibodies were also detected. Upper gastrointestinal endoscopy demonstrated the presence of atrophic gastritis and scalloping of duodenal folds, and the duodenal mucosa was pale and edematous. On pathologic examination, subtotal villous atrophy and increased number of intraepithelial lymphocytes in the duodenal mucosa were detected. The femur neck and lumbar vertebrae were osteoporotic with an increased risk of spontaneous fracture revealed by bone mineral density measurement with dual-energy X-ray absorptiometry (DEXA) (T scores of -5.4, -3.7, respectively).

A gluten-free diet for celiac disease was prescribed. Replacement treatment with iron, calcium, and vitamin D was initiated. The early diagnosis makes it possible to initiate an appropriate hormonal treatment to achieve normal growth and to induce puberty. In conclusion, considering that the patients with Turner syndrome have a high prevalence of autoimmune disease, an early investigation for celiac disease should be carried out in those with Turner syndrome.¹²

Sources:

1. Freriks K, Timmermans J, Beerendonk CC, Verhaak CM, Netea-Maier RT, Otten BJ, Braat DD, Smeets DF, Kunst DH, Hermus AR, Timmers HJ. Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome. J Clin Endocrinol Metab. 2011 Sep;96(9):E1517-26. doi: 10.1210/jc.2011-0346. [↩]
2. Demırezer A, Ersoy R, Akin E, Ersoy O. Celiac disease in patient with Turner syndrome. Turk J Gastroenterol. 2012;23(6):812-3. [↩]
3. Bonamico M, Pasquino AM, Mariani P, et al. Prevalence and clinical picture of celiac disease in Turner syndrome. Journal of Clinical Endocrinology and Metabolism. Dec 2002;87(12):5495-8. [↩]
4. Goldacre MJ, Seminog OO. Turner syndrome and autoimmune diseases: record-linkage study. Arch Dis Child. 2014 Jan;99(1):71-3. doi: 10.1136/archdischild-2013-304617. [↩]
5. Demırezer A, Ersoy R, Akin E, Ersoy O. Celiac disease in patient with Turner syndrome. Turk J Gastroenterol. 2012;23(6):812-3. [↩]
6. Freriks K, Timmermans J, Beerendonk CC, Verhaak CM, Netea-Maier RT, Otten BJ, Braat DD, Smeets DF, Kunst DH, Hermus AR, Timmers HJ. Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome. J Clin Endocrinol Metab. 2011 Sep;96(9):E1517-26. doi: 10.1210/jc.2011-0346. Epub 2011 Jul 13. [↩]
7. Cummins AG, Thompson FM, Butler RN, et al. Improvement in intestinal permeability precedes morphometric recovery of the small intestine in coeliac disease. Clinical Science. Apr 2001;100(4):379-86. [↩]
8. Farhadi A, Banan A, Fields J, Keshavarzian A. Intestinal barrier: an interface between health and disease. Journal of Gastroenterology and Hepatology. 2003;18:479-91. [↩] [↩] [↩] [↩] [↩] [↩]
9. Goldacre MJ, Seminog OO. Turner syndrome and autoimmune diseases: record-linkage study. Arch Dis Child. 2014 Jan;99(1):71-3. doi: 10.1136/archdischild-2013-304617. [↩]
10. Freriks K, Timmermans J, Beerendonk CC, Verhaak CM, Netea-Maier RT, Otten BJ, Braat DD, Smeets DF, Kunst DH, Hermus AR, Timmers HJ. Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome. J Clin Endocrinol Metab. 2011 Sep;96(9):E1517-26. doi: 10.1210/jc.2011-0346. [↩]
11. Bonamico M, Pasquino AM, Mariani P, et al. Prevalence and clinical picture of celiac disease in Turner syndrome. Journal of Clinical Endocrinology and Metabolism. Dec 2002;87(12):5495-8. [↩]
12. Demırezer A, Ersoy R, Akin E, Ersoy O. Celiac disease in patient with Turner syndrome. Turk J Gastroenterol. 2012;23(6):812-3. [↩]