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BACKGROUND: Atrophic autoimmune thyroiditis (AAT) is a rare phenotype of autoimmune thyroiditis (AT) in pediatric age. AAT occurs without thyroid enlargement leading to a delay in its diagnosis. Growth impairment is infrequent in autoimmune thyroiditis, if timely diagnosed. Prolonged severe hypothyroidism is a rare cause of pituitary hyperplasia (PH) in childhood. Loss of thyroxine negative feedback causes a TRH-dependent hyperplasia of pituitary thyrotroph cells resulting in adenohypophysis enlargement. A transdifferentiation of pituitary somatotroph cells into thyrotroph cells could explain growth failure in those patients. METHODS: Twelve patients were retrospectively evaluated at five Italian and Polish Centres of Pediatric Endocrinology for height growth impairment. In all Centres, patients underwent routine clinical, biochemical and radiological evaluations. RESULTS: At the time of first assessment, the 75% of patients presented height growth arrest, while the remaining ones showed growth impairment. The study of thyroid function documented a condition of hypothyroidism, due to AT, in the entire cohort, although all patients had no thyroid enlargement. Thyroid ultrasound showed frankly atrophic or normal gland without goiter. Cerebral MRI documented symmetrical enlargement of the adenohypophysis in all patients and a homogeneous enhancement of the gland after the administration of Gadolinium-DPTA. Replacement therapy with levothyroxine was started and patients underwent close follow-up every 3 months. During the 12 months of follow-up, an improvement in terms of height growth has been observed in 88% of patients who continued the follow-up. Laboratory findings showed normalization of thyroid function and the control brain MRI documented complete regression of PH to a volume within the normal range for age and sex. CONCLUSIONS: This is the largest pediatric cohort with severe autoimmune primary hypothyroidism without goiter, but with pituitary hyperplasia in which significant growth impairment was the most evident presenting sign. AAT phenotype might be correlated with this specific clinical presentation. In youths with growth impairment, hypothyroidism should always be excluded even in the absence of clear clinical signs of dysthyroidism.
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Hiperplasia , Tiroiditis Autoinmune , Humanos , Niño , Masculino , Femenino , Estudios Retrospectivos , Tiroiditis Autoinmune/complicaciones , Adolescente , Trastornos del Crecimiento/etiología , Hipófisis/patología , Hipófisis/diagnóstico por imagen , Italia , Imagen por Resonancia Magnética , Preescolar , Tiroxina/uso terapéutico , Estudios de Seguimiento , AtrofiaRESUMEN
A complete gonadal dysgenesis (CGD) with 46,XY karyotype is known as the Swyer syndrome and belongs to the group of 46,XY differences of sex development (DSD). The main problem in patients with Swyer syndrome is the delayed puberty and primary amenorrhea. Moreover, intrabdominal dysgenetic gonads in the patient with genetic material of a Y chromosome may conduce to the development of gonadal tumors, such as gonadoblastoma or germinoma. The management of such patients is based on preventive excision of dysgenetic gonads and long-term hormonal replacement therapy. Sporadic cases are considered more common than familial cases. This paper presents two siblings with Swyer syndrome in whom gonadoblastoma was found. A thorough review of familial CGD with 46,XY DSD in the literature from the last 15 years suggests that the risk of gonadal tumors could be increased in familial compared to sporadic cases (66.6% vs. 15-45%, respectively).
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Introduction: Turner Syndrome (TS) is caused by the complete or partial loss of one of the X chromosomes in all or some female cell lines. The variable genotypes are responsible for a large phenotypic diversity, nevertheless most studies emphasize a weak correlation between genotype and phenotype. The study aimed to assess the occurrence of defects and diseases depending on the karyotype in patients with TS and correlation with the predicted health care profile after the transition to adulthood. Materials and methods: 45 patients of the Department of Endocrinology and Pediatrics of the Medical University of Warsaw in 1990-2002 were analyzed. Girls were divided into 2 subgroups: "A", which included 16 patients with the karyotype 45,X, and "B", which included 29 girls with mosaic karyotypes. Based on the literature data, characteristic phenotypic features and the typical defects or diseases accompanying TS were selected, and the frequency of their occurrence was compared in both subgroups. Accordingly to this data, the predicted medical care profile was determined. Results: In our study, patients with complete monosomy of the X chromosome had more characteristic phenotypic features. They needed sex hormone replacement therapy more often and started to menstruate spontaneously much less frequently (only 18.18% in monosomy vs. 73.91% in mosaic patients, p = 0.006). In patients with monosomy, congenital defects of the circulatory system were found more often (46.67% vs. 30.77%). The diagnosis in patients with mosaic karyotype was more often delayed, therefore the optimal time of growth hormone therapy was shorter. In our study, the X isochromosome determined the higher prevalence of autoimmune thyroiditis (83.33% vs. 12.5%, p = 0.049). We didn't find a correlation between the type of karyotype and health care profile after the transition, most of the patients needed more than 2 specialists. Most often, they required: gynecologists, cardiologists, and orthopedics. Conclusions: After the transition from pediatric to adulthood, patients with TS need multidisciplinary care, but not all need the same kind of assistance. The phenotype and comorbidities determine the profile of patients' health care, however it wasn't directly related to the type of karyotype in our study.
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The alterations in thyroid function during recombinant human growth hormone (rhGH) treatment have been reported by many authors since this therapy became widely available for patients with growth hormone deficiency (GHD). Decrease of thyroxine level is the most frequent observation in patients treated with rhGH. This paper presents literature data describing changes in thyroid function related to rhGH therapy and a current explanation of mechanisms involved in this phenomenon. The effect of GH on the hypothalamic-pituitary-thyroid (HPT) axis is dependent on a multilevel regulation beginning from influence on the central axis, thyroid, and extra-thyroidal deiodinases activity as well as the impact on thyroid hormone receptors on the end. Changes in central and peripheral regulation could overlap during rhGH therapy, resulting in central hypothyroidism or an isolated slight deficiency of thyroxine. The regular monitoring of thyroid function is recommended in patients treated with rhGH and the decision of levothyroxine (L-thyroxine) supplementation should be made in the clinical context, taking into account thyroid hormone levels, as well as the chance for satisfactory growth improvement.
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BACKGROUND: Hypothyroidism in children leads to growth retardation. However, there is some evidence that recombinant human growth hormone (rhGH) therapy could suppress thyroid function. The most common observation in rhGH-treated patients is a decrease in thyroxine levels, which is reported as transient, but the studies in the field are inconsistent. We aimed to evaluate thyroid function in initially euthyroid children with idiopathic isolated GH deficiency during long-term rhGH therapy and to determine who is at a higher risk of thyroid function alterations during the therapy. METHODS: The study group consisted of 101 children treated with rhGH for at least three years. Serum TSH and fT4 levels were determined at baseline, after the first six months and after each full year of therapy. The associations between changes in thyroid hormone levels during rhGH therapy and GH deficit, insulin-like growth factor-1 levels and growth response were investigated. RESULTS: A significant decrease in fT4 levels (p = 0.01) was found as early as after the first six months of rhGH therapy. This effect persisted in the subsequent years of treatment without any significant changes in TSH values and tended to be rhGH dose related. Children with a greater fT4 decrease after the initiation of rhGH therapy were older, had higher bone age and responded to that therapy worse than children with lower fT4 changes. CONCLUSIONS: Our study revealed a long-term decrease in fT4 levels during rhGH therapy in initially euthyroid GHD children. The decrease in fT4 levels was associated with a lower growth response to rhGH therapy.
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Introduction: In the majority of countries, autoimmune thyroiditis is the main cause of acquired hypothyroidism in children. Typically, the natural course of the disease is initially insidious and the diagnosis is incidental. There are some children who develop severe hypothyroidism without a proper diagnosis. The aim of the study was to analyze the clinical and biochemical profiles of children with severe primary hypothyroidism due to autoimmune thyroiditis. Materials and Methods: We analyzed the records of 354 patients diagnosed between 2009 and 2019 with autoimmune thyroiditis. Only patients with TSH above 100 µIU/mL, associated with decreased free thyroxine and the presence of antithyroid antibodies, were enrolled in the study. The analysis encompassed clinical symptoms, thyroid and biochemical status, bone age, and imaging. Results: Twenty-six children were enrolled in the study. The mean age at diagnosis was 10.26 ± 3.3 years, with a female preponderance of 1.8:1. The most frequent symptom was growth impairment (77%) and weight gain (58%). Goiters were present in 42% of patients. Less common findings were pituitary hypertrophy (four patients) and hypertrichosis (three patients). Median values at the time of diagnosis were TSH 454.3 uIU/ml (295.0-879.4), anti-TPO antibodies 1,090 IU/ml, and anti-Tg antibodies 195 IU/ml. Anti-TSHR ab were evaluated only in six out of the 26 patients. The characteristic biochemical profile was correlated with the grade of hypothyroidism, and the strongest correlations were found with CBC parameters, lipid profile, aminotransferases, and creatine. Conclusion: In children with severe hypothyroidism, the most sensitive symptoms are growth arrest and weight gain despite the fact that, in some children, the auxological parameters at presentation could be within normal values for the population. The specific biochemical profile closely correlates to the severity of thyroid hormone deficiency and involves mostly erythropoiesis, liver function, and kidney function. Pituitary enlargement should be considered in each child with severe hypothyroidism. It is necessary to conduct prospective studies evaluating the actual frequency of anti-TSHR antibodies and pituitary enlargement in children with extremely high TSH, especially those presenting without goiters.
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Hipotiroidismo/sangre , Hipotiroidismo/diagnóstico , Tiroiditis Autoinmune/complicaciones , Adolescente , Niño , Preescolar , Femenino , Humanos , Hipotiroidismo/etiología , Masculino , Estudios Retrospectivos , Índice de Severidad de la Enfermedad , Tiroiditis Autoinmune/sangreRESUMEN
Proper treatment of congenital hypothyroidism warrants normal intellectual and physical development. This paper introduces the principles of treatment of congenital hypothyroidism, the recommended levothyroxine dosage, and the aims of therapy with its justification. The principles of treatment, specialist care of the patient, and methods used to evaluate therapeutic effects are described. Based on these data, recommendations concerning treatment and its monitoring in patients with congenital hypothyroidism are formulated. The paper also highlights the importance of educating the patients and/or their caretakers as one of the basic components of an effective therapy. The interpretation of screening tests in preterm neonates is provided as well. In the current screening program in preterm children TSH was determined between days three and five of life and then after three weeks. During this time TSH values are frequently low because of the immaturity of the hypothalamic-pituitary axis. Due to the increased risk of primary and secondary hypothyroidism in preterm and low birth weight babies the determination of TSH and fT4 between days three and five of life is recommended, irrespective of the screening test. (Endokrynol Pol 2016; 67 (5): 536-547).