Child ; Female ; Humans ; Polyendocrinopathies, Autoimmune ; classification ; diagnosis ; therapy ; Treatment Outcome

Adolescent ; Female ; Humans ; Polyendocrinopathies, Autoimmune ; classification ; diagnosis ; drug therapy

Humans ; Polyendocrinopathies, Autoimmune ; Multiple Endocrine Neoplasia Type 2a ; Syndrome

Autoimmune polyglandular syndrome (APGS) is characterized by the association of two or more endocrine disorders that are mediated by autoimmune mechanism. We herein report a case of alopecia areata associated with APGS type III. This particular case involved autoimmune Hashimoto thyroiditis, systemic lupus erythematosus (SLE), and vitiligo, and so met the criteria of APGS type III.
Alopecia Areata* ; Alopecia* ; Hashimoto Disease ; Lupus Erythematosus, Systemic ; Polyendocrinopathies, Autoimmune* ; Vitiligo

Autoimmune polyendocrinopathy syndrome is a heterogeneous group of rare diseases characterized by autoimmune activity against more than one endocrine organ, although non-endocrine organs can be affected. We present a case of autoimmune polyendocrinopathy syndrome type 2 in a 42-year-old woman with Guillain-Barre syndrome and scleroderma. This combination of syndromes has not been reported and warrants further investigation.
Adult ; Female ; Guillain-Barre Syndrome ; complications ; diagnosis ; Humans ; Polyendocrinopathies, Autoimmune ; diagnosis ; Scleroderma, Diffuse ; complications ; diagnosis

Autoimmune polyendocrine syndrome type 1 (APS-1), or autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy is a rare, autosomal recessive autoimmune disease caused by a mutation of the autoimmune regulator (AIRE) gene. The main symptom triad in APS-1 comprises chronic mucocutaneous candidiasis, adrenal insufficiency, and hypoparathyroidism. Various autoimmune diseases and ectodermal abnormalities are also commonly associated with the syndrome. The treatment of APS-1 includes hormone replacement and symptom control. It is important to monitor such patients for clinical manifestations of their disease through regular follow-up. We report the case of a 10-year-old Korean girl with APS-1 due to a novel compound heterozygous mutation of the AIRE gene. This patient's main clinical manifestations were adrenal insufficiency and chronic mucocutaneous candidiasis. The patient had a previously known pathogenic variant of c.1513delG (p.Ala505ProfsTer16), and a newly discovered variant of c.1360dupC (p.His454ProfsTer50).
Adrenal Insufficiency ; Autoimmune Diseases ; Candidiasis, Chronic Mucocutaneous ; Child ; Ectoderm ; Female ; Follow-Up Studies ; Humans ; Hypoparathyroidism ; Polyendocrinopathies, Autoimmune

Type II autoimmune polyglandular syndrome typically presents in adulthood. Insulin dependent diabetes mellitus and thyroid dysfunction are the most frequent manifestations. Addison's disease is the third major endocrine component of this disorder. In this report, we described a thirty-two year-old male patient who had hypogonadism, insulin dependent diabetes mellitus, and mild Addison's disease presenting its first manifestation as an acute adrenal crisis due to diabetic ketoacidosis. The ACTH concentration will be elevated early in the course of Addisons disease even before a significant reduction in the basal cortisol level or its response to exogenous ACTH occurs. Therefore, plasma ACTH measurements serve as a valuable screening study for Addisons disease.
Addison Disease* ; Adrenocorticotropic Hormone ; Diabetes Mellitus ; Diabetic Ketoacidosis* ; Humans ; Hydrocortisone ; Hypogonadism ; Insulin ; Male ; Mass Screening ; Plasma ; Polyendocrinopathies, Autoimmune ; Thyroid Gland

The polyglandular autoimmune(PGA) syndrome designate as the dysfimction of endocrine and nonendocrine systems involving two or more organs on the basis of an autoimmune mechanism. There are 3 types of PGA syndrome and their etiology or pathogenesis is still not complete by understood. Type I PGA is present in the patients who have at least two of the triad of Addison's disease, hypopacathyroidism, and chronic mucocutaneous candidiasis. Type II PGA is present in the those who have Addisons disease with autoimmune thyroid disease and/or insulin dependent diabetes mellitus, but who do not have hypoparathyroidism or candidiasis. Type III PGA is present in the one who have autoimmune thyroid disease, without Addisons disease, but with another autoimmune disease report a case of autoimmune polyglandular syndrome type II in a seventy-three years old female patient who had primary adrenal insufficiency, primary hypothyroidism, and empty sella, pulmonary tuberculosis.
Addison Disease ; Autoimmune Diseases ; Candidiasis ; Candidiasis, Chronic Mucocutaneous ; Diabetes Mellitus ; Female ; Humans ; Hypoparathyroidism ; Hypothyroidism ; Insulin ; Polyendocrinopathies, Autoimmune ; Thyroid Diseases ; Tuberculosis, Pulmonary

To evaluate the effects of glutamine-supplemented parenteral nutrition (PN) and probiotics in adult autoimmune enteropathy (AIE) patients. Four adult AIE patients were identified from April 2006 to January 2012. Clinical and nutritional data were obtained from the patients' medical records. Glutamine-supplemented PN started immediately when the AIE diagnosis was confirmed. The total PN duration was 351 days. According to the PN prescription, the average caloric intake ranged from 20 to 25 kcal/kg/day, and the protein intake ranged from 1.2 to 1.5 g/kg/day. Alanyl-glutamine (20 g/day) was administered to AIE patients for 4 weeks followed by a 2-week break, and this treatment schedule was repeated when PN lasted for more than 6 weeks. Body weight gain and an increased serum albumin level were achieved after PN, and defecation frequency and quality also improved. Each patient received oral supplements, 250 mL of Ensure and two probiotics capsules (each capsule containing 0.5x10(8) colonies) three times a day when enteral nutrition started. Three AIE patients were successfully weaned off PN, and one patient died of pneumonia. Glutamine-supplemented PN and probiotics show promise in managing patients with AIE and related malnutrition.
Adult ; Bifidobacterium ; Enterococcus faecalis ; Female ; Glutamine/*administration & dosage ; Humans ; Lactobacillus acidophilus ; Length of Stay ; Male ; Malnutrition/therapy ; Parenteral Nutrition/*methods ; Polyendocrinopathies, Autoimmune/*therapy ; Probiotics/*administration & dosage ; Young Adult

OBJECTIVETo investigate the prevalence of positive thyroid antibodies in children with type 1 diabetes mellitus (T1DM) and its influencing factors.

METHODSThe clinical data of T1DM children who were treated in the Children's Hospital of Zhejiang University from May 2005 to April 2011 were retrospectively studied. The relationships of thyroid globulin antibody (TGAb) and thyroid peroxidase antibody (TPOAb) with cytokines IL-2, IL-4, IL-6, IL-10, TNF and IFN-γ were evaluated, and the percentages of CD3+, CD4+ and CD8+ T-lymphocytes in peripheral blood were examined.

RESULTSA total of 186 T1DM children with complete data of both TGAb and TPOAb were included in the study, among whom 143 with normal TGAb and TPOAb levels and 43 (23.1%) presented with positive thyroid antibody (including 21 cases with both positive TGAb and positive TPOAb). Eighteen cases (9.7%) were diagnosed as autoimmune polyglandular syndrome type 3 variant (APS3v). Significantly more patients in the positive thyroid antibody group had a family history of diabetes than in the negative thyroid antibody group (27.9% vs 14.7%; P<0.05). The average age of the positive thyroid antibody group was 10.1±3.2 years, which was significantly greater than that in the negative thyroid antibody group (8.1±4.0 years) (P<0.05). The IL-2 level (4.48 ±1.27 pg/mL vs 2.82 ±0.84 pg/mL, P<0.05) and the percentage of peripheral CD3+ T-lymphocyte[(61±11)% vs (66±11)%; P<0.05] were also different between the positive and negative thyroid antibody groups.

CONCLUSIONSGenetic background and abnormal function of T-lymphocytes (especially higher IL-2 level) may be involved in the elevated prevalence of positive thyroid antibody in T1DM children.

Adolescent ; Autoantibodies ; blood ; Child ; Cytokines ; blood ; Diabetes Mellitus, Type 1 ; immunology ; Female ; Humans ; Male ; Polyendocrinopathies, Autoimmune ; etiology ; T-Lymphocytes ; immunology ; Thyroid Gland ; immunology