A case study on Hashimoto's thyroiditis induced electrolyte imbalance

Lymphocytic thyroiditis is an autoimmune condition where auto-antibodies are produced against the thyroid gland. Initially, there might be a hyperthyroidism condition where T3 and T4 levels are high and external inflammation of thyroid gland might be seen, but over the course of time the destruction of thyroid gland can result in hypothyroidism where the complete destruction of thyroid gland. Electrolyte imbalances notably hypokalemia and hypomagnesemia with Hashimoto thyroiditis is a rare condition, in this article we will discuss about the course of treatment a 40-year-old female patient who presented with atypical symptoms of Hashimoto thyroiditis during her stay in the hospital.     

Silent thyroiditis in an eleven-year-old girl, associated with transient increase in serum IgM and thyroid hormone.

An 11-year-old-girl with silent thyroiditis associated with a transient increase in serum IgM and thyroid hormone is described. The levels of serum IgM decreased from 4.38 g/L to 3.35 g/L after 1.5 months at the same time as thyroid hormones returned to normal. An unidentified antecedent infection or exposure to antigen causing the increase in serum IgM might have triggered the occurrence of silent thyroiditis in this patient, although a search for viral antibodies revealed no significant titer changes during the course of the disease.     

Follow-up Study of Physical Growth of Children Who Had Excessive Weight Gain in First Six Months of Life

The aim of this study was to determine whether excessive weight gain in the first six weeks, three months, or six months of life was correlated. with overweight and obesity at the age of 6 to 8 years. One hundred and thirty eight infants with excessive weight gain in the first six months of life, 53 children with slow weight gain, and 33 children with an average weight gain were re-examined at the age of 6, 7, or 8 years.The mean height and weight of children who had gained weight rapidly in infancy were significantly higher than those of children who had gained weight slowly; those of infants whose weight gain had been average fell in between. The number of obese children in the rapid-weight-gain group was significantly higher than that of the combined average and slow-weight-gain groups. The rapidity of weight gain in infancy was a better guide to the risk of overweight in later childhood than the weight of the parents.     

Clinical, biochemical and morphologic diagnostic markers in an infant male pseudohermaphrodite patient with compound heterozygous mutations (G115D/R246W) in SRD5A2 gene

A patient with male pseudohermaphroditism and clinical diagnosis of partial androgen insensitivity in the neonatal period was studied at pubertal age for a molecular diagnosis. Hormone studies were conducted at baseline and under hCG stimulation for testosterone and dihydrotestosterone determinations at 2 months of age. Gonadectomy was performed at 4 months. At the age of 13 years genital skin fibroblasts were studied for androgen binding and 5alpha-reductase activity and peripheral blood DNA was available for androgen receptor (AR) and 5alpha-reductase (SRD5A2) gene analysis. Exons 1-8 of AR gene and exons 1-5 of SRD5A2 gene were sequenced. AR gene coding sequences were normal. SRD5A2 gene analysis revealed two heterozygote mutations (G115D and R246W), with the mother carrying the G115D and the father the R246W mutations. The compound heterozygote mutations in SRD5A2 gene explained an extremely low 5alpha-reductase enzyme activity in genital skin fibroblasts. Revision of hormonal data from the neonatal period revealed an increased testosterone-to-dihydrotestosterone ratio at the end of an hCG stimulation test, which concurred with the molecular diagnosis. Testis morphology at 4 months of age was normal. Clinical and biochemical differential diagnosis between partial androgen insensitivity syndrome and 5alpha-reductase enzyme deficiency is difficult in the neonatal period and before puberty. Our results show that in our patient the testosterone-to-dihydrotestosterone ratio would have adequately orientated the diagnosis. The two mutations in SRD5A2 gene have been described in patients of different lineages, though not in combination to date. Testis morphology showed that, during early infancy, the 5alpha-reductase deficiency may not have affected interstitial or tubular development.     

Postpartum thyroiditis: current views on unappreciated disease

Postpartum thyroiditis is a form of autoimmune thyroiditis developing during the first 12 months postpartum as a consequence of the immunologic flare following the immune suppression of pregnancy. This disease, found in 5-10% of women in a general population and even more frequently in patients suffering from other autoimmune disorders, may re-occur in about 70% of women after a subsequent pregnancy. Postpartum thyroiditis is strongly associated with antithyroid peroxidase antibodies. Patients may present with symptoms of either thyrotoxicosis or hypothyroidism which may be transient or, in some (20-30%) cases of hypothyroidism, permanent in nature. A thyrotoxic phase of postpartum thyroiditis is usually brief and often unnoticed before a more long-lasting hypothyroid phase occurs. The diagnosis of postpartum thyroiditis is based on the observation of abnormal thyroid function tests in a postpartum antithyroid peroxidase- positive woman. In this paper, we discuss the etiopathogenesis, clinical picture, diagnosis, prognosis and treatment of postpartum thyroiditis and provide the reader with some practical guidance concerning dealing with a patient suffering from this disorder.     

Riedel's thyroiditis in a patient with multiple sclerosis

Our patient developed Riedel's thyroiditis soon after having an exacerbation of multiple sclerosis (MS). MS has been associated with other autoimmune diseases, including thyroiditis, and both Hashimoto's thyroiditis and subacute thyroiditis have been described in connection with MS. Yet, we are not aware of any other patient reported to have concomitant MS and Riedel's thyroiditis. The association between MS and Riedel's thyroiditis remains obscure but may reflect an autoimmune disorder common to both diseases.     

Urinary N-acetyl-beta-D-glucosaminidase (NAG) activity in patients with Graves' disease, subacute thyroiditis, and silent thyroiditis: a longitudinal study.

Urinary N-acetyl-beta-D-glucosaminidase (NAG) activity was measured longitudinally in 12 patients with Graves' disease, 5 patients with subacute thyroiditis, and 1 patient with silent thyroiditis, and compared with that of 36 normal controls. The patients with Graves' disease and subacute thyroiditis were treated with anti-thyroid drug (methimazole or propylthiouracil) and prednisolone, respectively. On the other hand, no treatment was given to the patient with silent thyroiditis. Since two patients with Graves' disease clearly showed transient deterioration of the thyroid function during the treatment period, data from these two patients were separately investigated. Urinary levels of NAG in the remaining ten patients with Graves' disease before, 1, 3, 6 and 12 months after the treatment were 15.59 +/- 7.93 (SD), 8.96 +/- 6.82, 4.39 +/- 2.33, 3.46 +/- 2.24, and 3.63 +/- 2.38 U/g.creatinine (g.Cr.), respectively. Those obtained before, 1 and 3 months after the treatment were significantly higher than those of the controls (2.85 +/- 1.12 U/g.Cr.). Free thyroid hormone levels became normal or low 3 months after the treatment. The two Graves' patients mentioned above showed a transient increase in urinary NAG with concomitant changes in free thyroid hormone levels. Urinary NAG levels in the patients with subacute thyroiditis before, 2, 4, and 6 weeks after the treatment were 16.56 +/- 10.97, 6.76 +/- 2.79, 3.14 +/- 0.48 and 3.70 +/- 1.44 U/g.Cr., respectively. Those obtained before and 2 weeks after the treatment were significantly higher than those of the controls. Free thyroid hormones were normal 2 weeks after therapy. Urinary NAG in the patient with silent thyroiditis was 9.60 U/g.Cr. on the first visit and gradually decreased.(ABSTRACT TRUNCATED AT 250 WORDS)     

Graves' hyperthyroidism following primary hypothyroidism due to Hashimoto's thyroiditis in a case of thyroid hemiagenesis: case report

Thyroid hemiagenesis (TH) is a rare inborn anomaly, resulting from failure of one thyroid lobe development. It is usually detected incidentally during investigation of concomitant thyroid disorders. The reported patient first presented hypothyroidism at the age of 49, when Hashimoto's thyroiditis (HT) and left thyroid lobe agenesis was diagnosed. L-thyroxine (LT4) replacement therapy restored hormonal balance. Two years later, the patient developed features of Graves' hyperthyroidism. The antithyroid pharmacotherapy by thiamazole was used. However, due to severe side-effects it was discontinued, and radioiodine treatment was applied. Four months after 131I administration, symptoms of hypothyroidism appeared, so thyroid hormone substitution was reintroduced. The patient, whose observation period has now reached 5 years, under LT4 replacement therapy, remains both clinically and biochemically euthyroid. The described case displays a very rare coincidence of hypothyroidism due to HT converted into Graves' hyperthyroidism, accompanying TH. Each of these three entities, may influence the thyroid function in a different way, hence, systematic follow-up and individual therapeutic management is required.     

Painful subacute thyroiditis in Hawaii.

Between 1960 and 1982 we prospectively studied 269 patients with painful subacute thyroiditis to determine the demographic characteristics, seasonality, and natural course of the disease. The mean age for all patients was 37.1 years. The female:male ratio was 6.7:1. At the first visit, disease was bilateral in 69%. No epidemic or seasonal pattern was identified. The mean duration of thyroid tenderness was 2.2 months and that of palpable thyroid lumps was 2.8 months. This time difference, sometimes lasting many months, left a painfree "window" during which the palpable hard residual mass of subacute thyroiditis may be confused with other thyroid problems, especially cancer.     

Early-life gut microbiome and cow’s milk allergy- a prospective case - control 6-month follow-up study

Increasing evidence suggests that perturbations in the intestinal microbiota in early infancy are implicated in the pathogenesis of food allergy (FA); existing evidence on the structure and composition of the intestinal microbiota in human beings with FA is limited and conflicting. The main object of the study was to compare the faecal microbiota between healthy and cow’s milk allergy (CMA) infants at the baseline immediately after the diagnosis, and to evaluate the changes in the faecal microbiota after 6?months of treatment of CMA infants with hypoallergenic formula (HF), compared with healthy children fed on standard milk formulae. Sixty infants younger than 4?months of age with challenge-proven CMA and 60 healthy age-matched children were investigated in this prospective case - control follow-up study. Faecal samples were collected at baseline and at 6?months of follow-up, microbial diversity and composition were characterized by high-throughput 16S rRNA sequencing. The average age (±SD) of the infants at inclusion was 2.9?±?1.0?months. Children with CMA have lower gut microbiota diversity and an elevated Enterobacteriaceae to Bacteroidaceae (E/B ratio) in early infancy compared with healthy children (115.8 vs. 0.8, P?=?0.0002). After 6?months of treatment with HF, CMA infants had a higher Lactobacillaceae (6.3% vs. 0.5%, P?=?0.04) and lower Bifidobacteriaceae (0.3% vs. 8.2%, P?=?0.03) and Ruminococcaceae (1.5% vs. 10.5%, P?=?0.03) abundance compared with control children. Conclusion: Low gut microbiota diversity and an elevated E/B ratio in early infancy may contribute to the development of FA, including CMA. A strict elimination diet may weaken FA by reducing E/B ratio and promoting a gut microbiota that would benefit the acquisition of oral tolerance.     

Malignant infantile osteopetrosis

Osteopetrosis, a rare congenital genetic disease characterized by increased bone density due to impaired bone resorption by osteoclasts. It is classified into three forms: Infantile malignant autosomal recessive (AR) osteopetrosis, intermediate (AR) osteopetrosis and autosomal dominant (AD) osteopetrosis. Incidence of infantile malignant AR is 1/2,00,000 and if untreated has a fatal outcome. The condition is commonly diagnosed in infancy with symptoms of significant hematologic abnormalities with bone marrow failure, hepatosplenomegaly, macrocephaly with frontal bossing and bone fractures. Because of rarity of this type of malignant infantile form of osteopretrosis, we like to report this case of malignant infantile osteopetrosis who presented with bronchopneumonia, anemia with melaena at 2 months 15 days of age.     

CTLA4 gene polymorphisms in children and adolescents with autoimmune thyroid diseases

Two common forms of autoimmune thyroid diseases are Graves' disease and Hashimoto's thyroiditis. Cytotoxic T lymphocyte antigen 4 (CTLA4) encoded by the CTLA4 gene on chromosome 2q33 plays a role in susceptibility to Graves' disease and is probably important also for Hashimoto's thyroiditis as well as for the other endocrine autoimmune disorders. The CTLA4 locus is the only nonhuman leukocyte antigen locus that has been found in association with Graves' disease repeatedly. Particularly, association of three polymorphic markers of CTLA4 gene, namely, C(-318)T, A49G, and (AT)n dinucleotide repeat, with Graves' disease was demonstrated in most of the population-based investigations. On the other hand, there are few studies to reveal the association of these markers with Hashimoto's thyroiditis. A49G polymorphism was proposed to be associated with Hashimoto's thyroiditis, and C(-318)T was suggested to be not associated. The patient groups consisted of 88 patients (10 males and 78 females; mean age: 14.5 +/- 3.2 years [4.6-21.0 years]) with a previous diagnosis of Hashimoto's thyroiditis and 112 euthyroid volunteers (51 males and 61 females; mean age: 14.1 +/- 2.9 years [5.2-18 years]). The frequency of A/G (A49G) genotype was high and statistically significant in patients with Hashimoto's thyroiditis in comparison with the control group. Although the frequency of C/T [C(-318)T] genotype is not significantly high in children with Hashimoto's thyroiditis according to the control group, the risk of Hashimoto's thyroiditis in A/G genotype group was 4.66 times greater than the group with A/A genotype. In this study, we documented that the A49G polymorphism might increase the susceptibility for Hashimoto's thyroiditis.     

Developmental continuity of working memory from infancy to preschool age

The objective of the paper was to study the developmental continuity of working memory function from infancy to preschool age. At the age of 10 to 11 months 44 participants completed delayed response task (A-not-B) that measures working memory function. Between 5 and 7 years of age the same participants performed three tasks assessing working memory for temporal order in auditory and visual modalities and a control task measuring short-term visuospatial memory. The dependence of temporal-order memory at preschool age on individual level of infant working memory was found for all methods of measurement despite the differences in way of presentation and reproducing of the stimuli order. Results indicate direct continuity in the development of working memory function from infancy to preschool age.     

Iron status of very-low-birth-weight infants during the first 15 months of infancy.

The adequacy of iron stores in infants of very low birth weight (defined as less than 1500 g) in Canada is unknown. We monitored the iron status of 81 such infants at 3, 6, 9, 12 and 15 months of age. All of the infants were fed formula fortified with iron (13 mg/L) for at least 6 months, starting at 2 months of age. The plasma ferritin level decreased after the formula was no longer used. Although 90% of the infants were given cereal fortified with iron (30 mg of iron per 100 g) by 9 months of age, the plasma ferritin level continued to decrease. The level was less than 10 micrograms/L in 54% of the infants at 12 months of age and in 74% at 15 months; this indicated depleted iron stores. Because of delayed development very-low-birth-weight infants eat small amounts of cereal and therefore require iron-fortified formula throughout infancy.     

Subacute thyroiditis associated with systemic multi-organ disorders

Subacute thyroiditis is generally thought to be a self-limited inflammatory disease of the thyroid gland. This paper describes serial observations on the clinical course of a typical patient with subacute thyroiditis. This patient showed specific features of destructive thyrotoxicosis with increases in the serum levels of acute phase reactants and in the erythrocyte sedimentation rate. She also showed signs of liver dysfunction [slightly increased alanine aminotransferase (ALT), alkaline phosphatase (ALP), gamma-glutamyl transpeptidase (gamma-GTP), and leucine aminopeptidase (LAP)], slight anemia, glucose intolerance, increased pancreatic enzymes, splenomegaly, and an increase in peripheral Leu 7 positive (NK/K) cells. These abnormalities all improved with recovery from disease. These findings indicate that in this patient with subacute thyroiditis inflammation is not limited to the thyroid gland but also involves the liver, pancreas and spleen. Thus the subacute thyroiditis in this patient may be a systemic multi-organ disease.     

Relationship between bronchial hyperresponsiveness and impaired lung function after infantile asthma

Wheezing during infancy has been linked to early loss of pulmonary function. We prospectively investigated the relation between bronchial hyperresponsiveness (BHR) and progressive impairment of pulmonary function in a cohort of asthmatic infants followed until age 9 years. We studied 129 infants who had had at least three episodes of wheezing. Physical examinations, baseline lung function tests and methacholine challenge tests were scheduled at ages 16 months and 5, 7 and 9 years. Eighty-three children completed follow-up. Twenty-four (29%) infants had wheezing that persisted at 9 years of age. Clinical outcome at age 9 years was significantly predicted by symptoms at 5 years of age and by parental atopy. Specific airway resistance (sRaw) was altered in persistent wheezers as early as 5 years of age, and did not change thereafter. Ninety-five per cent of the children still responded to methacholine at the end of follow-up. The degree of BHR at 9 years was significantly related to current clinical status, baseline lung function, and parental atopy. BHR at 16 months and 5 years of age did not predict persistent wheezing between 5 and 9 years of age, or the final degree of BHR, but it did predict altered lung function. Wheezing that persists from infancy to 9 years of age is associated with BHR and to impaired lung function. BHR itself is predictive of impaired lung function in children, strongly pointing to early airway remodeling in infantile asthma.     

A difficult diagnosis: a case report of combined Riedel's disease and fibrosing Hashimoto's thyroiditis

Riedel's disease (RD) is a rare form of chronic thyroiditis, predominantly characterised by fibrosis which may involve neighbouring tissues and organs. Hashimoto's disease (HD), on the other hand, is fairly common. Clinical differentiation between these diseases is often difficult, and the results of diagnostic imaging, laboratory tests and cytology studies are often similar. We report the case of a female patient with Riedel's thyroiditis displaying clinical, laboratory and radiological traits of both diseases. A 44 year-old Caucasian female was diagnosed with hypothyroidism. A fine-needle aspiration biopsy was performed; the findings were suggestive of an exacerbated chronic inflammatory process. However, a small lymphocyte-derived malignancy could not be ruled out with certainty, and so the patient was referred for elective thyroidectomy. The microscopic features of both specimens did not meet the criteria of Hashimoto's thyroiditis. The immunohistochemical studies revealed few scattered B lymphocytes (CD20 positive) and numerous scattered T lymphocytes (CD3 positive). Finally, Riedel's thyroiditis with an intense inflammatory infiltrate composed of lymphocytes was diagnosed. Reaching a diagnosis was particularly difficult in this patient, since Riedel's thyroiditis, the fibrosing form of Hashimoto's disease and malignant tumours of the thyroid can show similar traits upon physical and histopathological examination. As the clinical data was indicative of Hashimoto's thyroiditis and there were partial histological criteria of two forms of thyroiditis, namely Hashimoto's and Riedel's, the very rare diagnosis of a combined disease was made. Dense B and T lymphocytes and some plasma cell infiltrates, as well as the destruction of thyroid follicles by fibrosis extending into surrounding tissues, were supportive of the eventual diagnosis. Differentiating between the histopathological and clinical presentation of both diseases in one patient is difficult, primarily due to the partial overlapping of their histopathological traits. In order to avoid a diagnostic error, close cooperation between the endocrinologist and pathologist is mandatory. It is our opinion that in our patient the two diseases existed separately, and their coexistence was most likely coincidental.     

Elbow Flexion Contractures in Childhood in Obstetric Brachial Plexus Lesions: A Longitudinal Study of 20 Neurosurgically Reconstructed Infants with 8-Year Follow-up

Objective

 Little knowledge exists on the development of elbow flexion contractures in children with obstetrical brachial plexus lesion (OBPL). This study aims to evaluate the prognostic significance of several neuromuscular parameters in infants with OBPL regarding the later development of elbow flexion contractures.

Methods

 Twenty infants with OBPL with insufficient signs of recovery in the first months of life who were neurosurgically reconstructed were included. At a mean age of 4.6 months, the following neuromuscular parameters were assessed: existence of flexion contractures, cross-sectional area (CSA) of upper arm muscles on MRI, Narakas classification, EMG results, and elbow muscle function using the Gilbert score. In childhood at follow-up at mean age of 7.7 years, we measured the amount of flexion contractures and the upper arm peak force (Newton). Statistical analysis is used to assess relations between these parameters.

Results

 Flexion contractures of greater than 10 degrees occurred in 55% of our patient group. The relation between the parameters in infancy and the flexion contractures in childhood is almost nonexistent. Only the Narakas classification was related to the development of flexion contractures in childhood (p = 0.006). Infant muscle CSA is related to childhood peak muscle force.

Conclusion

 The role of infancy upper arm muscle hypotrophy/hypertrophy, reinnervation, and early elbow muscle function in the development of childhood elbow contractures remains unclear. In this cohort prediction of childhood flexion, contractures were not possible using infancy neuromuscular parameters. We suggest that contractures might be an adaptive process to optimize residual muscle function.     

Pathological characteristics of acute exacerbation of Hashimoto's thyroiditis--serial changes in a patient with repeated episodes

A 76-year-old female patient with known Hashimoto's thyroiditis had 12 episodes of acute exacerbation, characterized by high fever and spontaneous pain in the thyroid over a period of 4 months. Percutaneous needle biopsies were performed before and serially after local steroid injection. Histological examination of the thyroid tissue involved obtained before steroid administration revealed quite a unique localized edematous and inflammatory appearance with rich but loosely arranged collagen fibers, and destruction of follicular structures and swollen degenerated epithelia. Neither remarkable cellular infiltrations nor granulomatous changes were observed in the area involved. Ultrasonogram showed an extremely hypoechoic lesion coincident with the location of pain and tenderness. Intrathyroidal administration of triamcinolone acetate (40 mg) resulted in an immediate relief of pain, fever and localized swelling. Surprisingly, remarkable histological improvements were observed even on the day following the injection. However, clinical manifestations as well as histological changes were reversed again within one week or so. After various therapeutic means, total thyroidectomy was performed which induced disappearance of the manifestations. The etiology remains unclear, but pathological findings observed in this patient may provide an insight into the pathogenesis of this rare but intractable condition.     

Differences in the heritability of growth and growth velocity during infancy and associations with FTO variants

While the associations of common variants in the FTO gene with obesity have been widely replicated in adults, there is conflicting evidence regarding their effects in infancy. We hypothesize that the genetic influences on growth traits vary during infancy, and that conflicting results may stem from variation in the ages at which FTO associations have been examined. Using longitudinal weight and length data at 0, 1, 3, 6, 9, 12, 18, 24, 30, and 36 months in 917 (444 females, 473 males) family members from the Fels Longitudinal Study, we used a variance components-based approach (SOLAR) to: (i) examine differences in heritability (gene-by-age interaction) in weight, length, relative weight (BMI and ponderal index (PI)) and instantaneous weight and length velocities over the course of infancy, and (ii) test whether a common FTO variant (rs9939609) was associated with infant growth at three ages (maximum trait heritability, birth and 36 months). All heritabilities at birth (of 39-74%) were significant (P < 3.9 × 10(-10)), but changed with age (gene-by-age interaction, P < 0.05). Weight, relative weight, and weight velocity reached maximum heritabilities (of 76-89%) at 6-9 months, while length and length velocity reached maximum heritabilities (of 96-99%) at 18-30 months. We found no association of rs9939609 with growth status or velocity measured at any age (P > 0.11). This study for the first time demonstrates the fluctuation of genetic influences on infant growth, but further work is required to determine which gene variants explain the strong additive genetic effects observed.