Turner Syndrome carries elevated risk for development of Autoimmune Disorders such as Celiac.

What is Celiac Disease?

Celiac Disease is a permanent, genetic disorder that is characterized by an autoimmune reaction to the ingestion of gluten (a protein found in wheat, rye, and barley). This reaction causes damage to the absorption structures in the small intestines (villi) and ultimately result in:

    • Conditions of malnutrition
    • Potential damage to any organ system

There is no cure, the only known treatment is the complete removal of gluten from the diet.
Refer to Gastroenterology for intervention.


    • Affects all cultures, nationalities, and geographies.
    • 1 in 133 individuals in the U.S. are believed to have Celiac disease (CD) and it has been reported to take up to 11 years to diagnose
    • Presence of at least one of two key HLA haplotypes (genetics). Commonly, HLA-DQ2 (either or both alleles) in 95% of CD. Less commonly, HLA-DQ8 (both or with HLA-DQ2)

Classic Symptoms:

    • Anorexia
    • Diarrhea
    • Bloating/gas
    • Vomiting
    • Constipation
    • Lactose intolerance
    • Abdominal pain
    • Pale or foul smelling stool
    • Weight loss/muscle wasting

Non-classic Symptoms:

    • Failure to thrive infants.
    • Anemia resistant to oral iron therapy
    • Autoimmune thyroid disease
    • Unexplained short stature or delayed puberty
    • Depression, irritability, learning or behavior disorders
    • Seizures
    • Neropathy/ataxia
    • Recurrent fetal loss (intrauterine growth retardation)
    • Delayed or missed periods/infertility
    • Osteoporosis/osteopenia
    • Oral sores
    • Loss of tooth enamel
    • Vitamin deficiencies


Associated Disorders/Risk Factors:

    • Type 1 Diabetes
    • Thyroiditis
    • Addison’s Disease
    • Primary Biliary Cirrhosis
    • Autoimmune Hepatitis
    • Rheumatoid Arthritis
    • Sjogren’s Syndrome
    • Down Syndrome
    • Turner’s Syndrome
    • Williams Syndrome
    • Increased risk of celiac disease in relatives of celiacs:
    • 7-10% primary relatives
    • 3-5% secondary relatives


Celiac Disease and Turner ’s Syndrome – Putting it All Together

2002 Italian Study

    • 25/389 (6.4%) TS patients had celiac disease
    • 25 family members of the 25 also had celiac disease
    • Overlap of symptoms: short stature and delayed puberty
    • Before Growth Hormone and estrogen therapy, screen for celiac disease

Diagnosis of Celiac Disease

    • Serology
    • Total Serum IgA
    • Tissue transglutaminase antibody (tTg-IgA) (tTg-IgG if IgA deficient)
    • AGA IgA if <5 years old
    • Upper GI Endoscopy small biopsy small intestine
    • Bowel biopsy
    • Villous atrophy
    • Cryt hyperplasia

Dermatitis Herpetiformis:

    • Skin manifestation of celiac disease.
    • Itchy, pustules, bilateral
    • Dx by local skin biopsy
    • Frequently (-) serology, (+) SBB
    • Symptoms and villous atrophy respond to GFD

What is Gluten?

    • Gluten is the trigger for the inflammatory response of celiac disease.
    • Gluten is a general name for storage proteins
    • Immune system confuses normal intestinal cells for antigen or marker of illness and attacks self causing  cell injury in the process of trying to eradicate the illness.
    • Storage proteins in wheat, barley and rye are harmful to celiac- these grains and any ingredient that comes from them are eliminated in gluten free diet (GFD)
    • Spelt, kamut and triticale are botanically related to wheat and are eliminated too.

Nonceliac gluten sensitivity (NCGS)

Exclusion of CD and wheat allergy (WA) is necessary in the evaluation of a patient suspected to have NCGS. The onset of symptoms in patients with NCGS can occur within hours or days of gluten ingestion. Patients with NCGS have GI and extraintestinal symptoms that typically disappear when gluten-containing grains are eliminated from their diets. However, most patients suspected to have NCGS have already initiated a gluten-free diet at the time of an evaluation. A gluten elimination diet followed by a monitored open challenge of gluten intake to document recurrence of GI and/or extraintestinal symptoms can sometimes be helpful. If NCGS is strongly suggested, then a skilled dietitian with experience in counseling on gluten-free diets can provide proper patient education. 

Mayo Clin Proc. 2015;90(9):1272-1277 

The Gluten Free Diet:

    • Substitution of obvious sources- Market research shows 86% increase in new products in 2006, with continuing trend in 2007 and 2008.
    • Breads
    • Pasta
    • Baked Goods
    • Consider naturally gluten free dishes
    • Risotto
    • Stir-fry
    • Chili
    • Omelets
    • Managing unclear sources
    • Unexpected (French fries, soy sauce, rice crispies, medicine)
    • Hidden (Malt, bouillon cubes, brown rice syrup, caramel, dextrins, diglycerides, emulsifiers, fillers, flavorings, food starch, gravy, ground spices, gums, hydrolyzed plant protein, imitation bacon, imitation seafood, miso, modified starch, monoglycerides, MSG, natural color/flavor, smoke flavoring, stabilizers, textured vegetable protein, thickeners, vanilla, vegetable gum)
    • Cross contamination

The Food Allergen Labeling and Consumer Protection Act (FALCPA)

    • Currently, nutrition labels must list 8 most common allergens.
    • Definition of gluten free claim planned for fall of 2008.
    • Note: Law covers dietary supplements and vitamins, NOT prescription drugs or OTC medication

Provided by: The Kogan Celiac Center of the Saint Barnabas Health Care System 

More resources for Celiac Disease:

A Color Handbook of Pediatric Gastroenterology; Pohl, Jolley, Gelfond 2014

    • Bonamico, Margherita, et.al. Prevalence and Clinical Picture of Celiac Disease in Turner Syndrome. Journal of Clinical Endocrinology and Metabolism, 2002, Dec.  87: 12 (5495-5498)
    • Ivarsson, SA, et. al. Prevalence of celiac disease in Turner Syndrome. Acta Paediatrica, 1999, 88: 9 (933-936)
    • Arslan, D. et. al. Celiac Disease and Turner’s Syndrome: Patient Report. Journal of Pediatric Endocrinology and Metabolism, 2000, Nov.-Dec. 13: 9 (1629-1631)
    • Bonamico, Margherita, et. al. Celiac Disease and Turner Syndrome. Journal of Pediatric Gastroenterology and Nutrition, 1998, May. 26: 5 (496-499)
    • Lacaille, Florence, et. al. Celiac Disease, Inflammatory Colitis, and Primary Sclerosing Cholangitis in a Girl with Turner Syndrome. Journal of Pediatric Gastroenterology and Nutrition, 1995, Nov. 21: 4 (463-467)
    • Nemet, D. et. al. Short Stature, Celiac Disease, and Growth Hormone Deficiency. Journal of Pediatric Endocrinology and Metabolism, 2011, Mar. 22 (979-983)
    • Gillett, P.M. et. al. Increased Prevalence of Celiac Disease in Girls with Turner Syndrome. Journal of Pediatric Gastroenterology and Nutrition, 1999, Oct. 29: 4 (497)Websites
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