Subclinical Hypothyroidism as the Most Common Thyroid Dysfunction Status in Children With Down's Syndrome.

Introduction: Thyroid dysfunctions are one of the most common abnormalities coexisting in children with Down's syndrome (DS) and have been reported in up to 54% of cases. Aim of the Study: The purposes of this retrospective study were to investigate the course of subclinical hypothyroidism in children with DS, to evaluate the thyroid function of these subjects in relation to the risk of developing overt thyroid disease and autoimmunity, and to identify clinical and biochemical characteristics of patients prescribed L-T4 therapy in children and adolescents with DS and SH. Material and Methods: The records of DS patients referred to the Endocrinology Outpatient Clinic between 2010 and 2015 for screening of thyroid function were observed till the end of 2019 June and analyzed retrospectively. The children diagnosed with congenital hypothyroidism, acute lymphoblastic leukemia, and seizures and treated with drugs that may have interfered with thyroid function like lithium, antiepileptic, or iodinated drugs and glucocorticoids were excluded from the study. Results: The data of 77 DS patients were collected, evaluated, and analyzed. The study group consisted of 73 patients (32 girls and 41 boys with the mean age at baseline of 3.0 ± 4.5 years). A total of 63/73 (87%) children were diagnosed with SH. The 16/63 (25.4%) patients were followed-up without the treatment (group SH-T0), and therapy with levothyroxine (L-T4) was introduced in 47/63 (74.6%) SH children with a mean dosage of 1.8 ± 1.0 µg/kg/day (group SH-T1). Thyroxine supplementation did not improve growth expressed as ΔhSDS (0.1 ± 1.3, ranged -2.1 to 3.8 in SH-T0 vs. 0.0 ± 0.7, ranged -1.7 to 1.4 in SH-T1, p = 0.96) and ΔBMI Z-score (0.3 ± 0.9, ranged -0.9 to 2.6 in SH-T0 vs. 0.3 ± 1.1, ranged -2.1 to 2.9 in SH-T1, p = 0.65). Positive anti-TPO and anti-TG antibodies were detected in 7/63 (11.1%) DS cases. Conclusions: SH is the most frequent presentation of thyroid gland dysfunction in DS children. A small percentage of patients develop an overt hypothyroidism, particularly in females with mostly positive titer of antithyroid autoantibodies.

Clinical and Biochemical Phenotype of Adolescent Males with Gynecomastia

Objective: Gynecomastia is defined as a benign proliferation of male breast glandular tissue. Its prevalence during puberty varies between 50-60% and is also common in neonatal and elderly males. It develops mainly due to the disequilibrium between estrogen and androgen activity in breast tissue, where estradiol (E2) binds to estrogen receptors and stimulates ductal and glandular cells. The aim of this work was to investigate the relationship between sex hormone alterations and the natural history of gynecomastia. Methods: Participants in this study were young males referred to an outpatient clinic, between January 2011 and February 2016, with breast enlargement. Thyroid function, liver function, hormone concentrations and tumor markers were measured and anthropometric assessment was conducted. Results: Subjects comprised 93 males, aged 9 to 18 (mean±standard deviation age 13.8±2.6) years. In 63 of 93 (67.7%) the gynecomastia was confirmed and 28 were followed-up for a median period of three months. None of the boys showed any reduction in breast size during follow-up. There was no correlation between body mass index Z-score and breast size. Breast enlargement progressed in nine boys (32.1%). A positive correlation between estrogen to testosterone (E2/TTE) ratio and Tanner B stage (r=0.47; p=0.034) was observed. Conclusion: The E2/TTE ratio may be a helpful tool in diagnosing gynecomastia. Altered E2/TTE ratio might be responsible for a proportion of cases described previously as idiopathic. Additionally, weight loss does not imply reduction of breast size in boys. Nonetheless it should be the first step in the management of prolonged gynecomastia.

Isolated Subclinical Hyperthyrotropinemia in Obese Children: Does Levothyroxine (LT4) Improve Weight Reduction during Combined Behavioral Therapy?

Objective. The study aim was to analyze whether anthropometrical parameters and TSH values in obese children with isolated subclinical hypothyroidism (IsHT) treated with levothyroxine (LT4) and weight reduction program differ from those managed by dietary and behavior counselling only. Material and Methods. 51 obese children with IsHT, who were treated according to the same weight reduction program, were retrospectively analyzed. They were divided into two groups: Group 1, n = 26, and Group 2, n = 25, without or with LT4 therapy, respectively. Changes in anthropometrical (delta BMI z-score) and hormonal (delta TSH) status were analyzed at the first follow-up visit. Results. In both groups significant decrease of TSH and BMI z-score values were noted. TSH normalized in 80.9% of children from Group 1 versus 90.5% from Group 2, p = NS. Delta BMI z-score was insignificantly higher in Group 1 compared to Group 2. Delta TSH was significantly related to initial TSH level in children treated by lifestyle intervention program only. Conclusions. In obese children with sHT dietary-behavioral management intervention contributed to reduction of body mass index, irrespective of levothyroxine use. This finding suggests that moderately elevated levels of TSH are a consequence rather than cause of overweight and pharmacological treatment should be avoided.

Obesity risk factors in a representative group of Polish prepubertal children.

INTRODUCTION: The study aim was to evaluate risk factors of obesity in Polish children aged 7 to 9 years. MATERIAL AND METHODS: A representative group of 2571 children (1268 girls and 1303 boys) was randomly selected according to the European Childhood Obesity Group protocol. Weight and height were measured and body mass index (BMI) was calculated. A questionnaire was completed by the children's parents with respect to behavioural and family-related risk factors of obesity. International Obesity Task Force criteria were used for classification of children's obesity. RESULTS: Obesity was found in 3.7% of girls and 3.6% of boys. There was a statistically significant association between the prevalence of obesity in girls and their mother's obesity: OR = 5.06 (1.96-13.05), p < 0.001, father's obesity: OR = 5.19 (1.96-13.69), p < 0.001, and both parents' obesity: OR = 5.43 (1.39-21.29), p = 0.01. Obesity in boys was significantly associated with mother's obesity: OR = 5.6 (2.6-12.02), p < 0.001, father's obesity: OR = 6.21 (2.89-13.37), p < 0.001, and both parents' obesity: OR = 7.22 (2.44-31.33), p < 0.001. Skipping or irregular eating of breakfast was a risk factor for obesity in girls with OR = 2.71 (1.33-5.51), p = 0.005. Neither family income nor parents' education level was related to their offspring's obesity. TV watching, physical activity level and eating in fast food places were not significant risk factors for obesity. CONCLUSIONS: Eating breakfast regularly seems to protect girls from obesity development while low physical activity is not a significant obesity risk factor in this age group for either boys or girls. This finding stresses the more important role of healthy diet than physical activity promotion in obesity prevention in prepubertal children.

[Subclinical hypothyroidism in obese children]. / Subkliniczna niedoczynnosc tarczycy u otylych dzieci.

Subclinical hypothyroidism (SH) is defined as an elevated thyroid stimulating hormone (TSH) associated with normal levels of free thyroxine. In obese persons prevalence of SH is significantly higher than in general population. SH is of particular interest in children with respect to the crucial role of thyroid hormones in the development of central nervous system and linear growth. Currently there is no general consensus on the treatment of SH with L-tyroxine. It is suggested that this hormonal state is rather a consequence that the cause of the overweight status.

Incidence and dynamics of thyroid dysfunction and thyroid autoimmunity in girls with Turner's syndrome: a long-term follow-up study.

OBJECTIVE: Clinical studies suggest that the thyroid autoantibodies and/or hypothyroidism are not present in Turner's syndrome (TS) patients before the age of 8 years and are more frequent in patients with the X isochromosome. The aim of the study was to analyze the dynamics of thyroid dysfunction in girls with TS. DESIGN: 86 TS patients with a median age of 10.6 years were followed for 4.6 ± 3.0 years. OUTCOMES: The prevalence of thyroid abnormalities increased from 25.5 to 50% during the follow-up. Finally, 31 (36%) patients had positive thyroid autoantibodies and 27 (31.4%) had subclinical hypothyroidism. Hashimoto's thyroiditis was diagnosed in 15 patients. Median age of developing thyroid antibodies and subclinical hypothyroidism was 14.1 and 14.8 years, respectively. The youngest hypothyroid patient was 1.8 years old and the youngest girl with positive anti-thyroid antibodies was 5.5 years old. Autoantibodies appeared mainly after the age of 13. The risk of developing subclinical hypothyroidism was greatest between 12 and 14 years of age. The prevalence of thyroid abnormalities was not related to the karyotype. CONCLUSIONS: Thyroid autoimmunity and dysfunctions in TS may start early, their prevalence increases with age, independently of karyotype and without any clinical symptoms and signs.

Bone mineral density and metabolism in levothyroxine-treated adolescent girls with euthyroid diffuse goiter.

INTRODUCTION: Bone and mineral metabolism is influenced by thyroid hormones, and levothyroxine (LT(4)) therapy may be associated with reduced bone mass in postmenopausal women. MATERIAL AND METHODS: The aim of the study was to assess the influence of one year of LT(4) treatment in a group of 21 adolescent girls with euthyroid diffuse goiter. Lumbar (L(2)-L(4)) and total body bone mineral density (TOBMD) (Lunar - DXA), serum PTH, osteocalcin, bone alkaline phosphate, vitamin D(3), calcium, and phosphorus levels and urinary excretion of Ca, P, and hydroxyproline were measured before and after one year of combined LT(4) and iodine treatment. RESULTS: Patients were matched for age, sex, BMI, and maturation status, with controls treated with iodine only. Markers of bone turnover changed in a similar manner in both groups. There was no significant difference in TOBMD value after one year of therapy between LT(4) treated group and controls. Densitometric lumbar spine parameters increased significantly after 12 months in both groups, with no significant differences between them. CONCLUSION: It can be concluded that one year of LT(4) treatment of adolescent girls with euthyroid diffuse goiter does not have a negative impact on their bone remodelling and metabolism. (Pol J Endocrinol 2010; 61 (1): 14-19).

[Causes of precocious puberty in children referred for evaluation in hospital conditions]. / Przyczyny przedwczesnego dojrzewania dzieci kierowanych do dianostyki w warunkach szpitalnych.

INTRODUCTION: Symptoms of precocious puberty (PP) in children always arouse anxiety in their parents. Many children with PP are being hospitalized for the detailed diagnostic work-up. The aim of our study was to analyze the frequency of the variants of PP in children referred to our department. MATERIAL: Retrospective analysis of 119 children (103 girls and 16 boys) referred for hospitalization in the years 2003-2005 due to signs of precocious puberty was performed. RESULTS: Premature thelarche, benign variant of puberty, was diagnosed in 62 (53%) girls, in the mean age of 3.39 (+/- 2.33) years. Their mean height was within 0.7 +/- 1.1 SD. Premature pubarche was diagnosed 30 (25%) children--22 girls and 8 boys in the mean age was 7.24 (+/- 0.81) years. Their mean height was 1.3 +/- 1.0 SD and was significantly higher than normal (p < 0.0001). Premature menarche was diagnosed in 8 (7%) girls in the mean age 4.81 +/-2.26 years. Mean height in this group was normal for age (0.9+/-0.8 SD). PP was diagnosed in 19 (16%) children (11 girls and 8 boys) in the mean age 5.91 +/- 1.63 years. Mean height in this group was 1.6 +/- 0.7 SD, and was significantly higher than the mean for age (p<0.0005). GnRH-dependent type was present in 15 children, diagnosed as idiopathic in 9 girls and 1 boy. In 5 children (4 boys and 1 girl) pathology of central nervous system was found. In 4 children GnRH-independent precocious puberty was diagnosed--in 3 caused by congenital adrenal hyperplasia and in 1 boy by tumour of testis (leydigioma). CONCLUSIONS: Girls with precocious thelarche without growth acceleration present the benign variant of puberty and need clinical follow up only. Boys with clinical signs of precocious puberty should be carefully evaluated to rule out the organic cause.

[Thyroid volume evaluation in girls with Turner syndrome according to normal range for healthy population]. / Ocena objetosci tarczycy u dziewczat z zespolem Turnera wedlug norm dla zdrowej populacji.

INTRODUCTION: Turner syndrome is a common chromosomal aberration. Among other features of that syndrome susceptibility to autoimmune diseases is well known. Most often there is Hashimoto's thyroiditis. Because of short stature the evaluation of thyroid volume according to chronological age seems to be not efficient. THE AIM of the study was to find an adequate method of thyroid volume evaluation in girls with Turner syndrome using standards for healthy children. MATERIAL AND METHODS: 54 girls with Turner syndrome were examined, mean age was 11 years and 9 months. Physical and ultrasonographic examination of thyroid gland was performed. The hormonal state and presence of antithyroid autoantibodies were evaluated. The thyroid volume was evaluated according to normal range (by Delange) for chronological and height age of each girl. RESULTS: According to chronological age the thyroid volume was in normal range, but according to height age in 3 patients the thyroid volume was over 97 percentile. They were the same girls in whom we detected goiter according to physical examination. CONCLUSIONS: We suggest that proposed method gives the possibility of an accurate evaluation of thyroid volume in patients with Turner syndrome and in other patients with growth deficiency.

[Ultrasound examination of the scrotum in boys]. / Badanie sonograficzne worka mosznowego u chlopców.

BACKGROUND: Ultrasound examination is applied in the objective evaluation of size of scrotal structures as well as in diagnosing focal and inflammatory lesions in testes and epididymis. AIM: The aim of our study is to point out the necessity and significance of the ultrasound in diagnostics of abnormalities within the scrotum in boys. MATERIAL AND METHODS: The examination included 180 boys, aged 2-17 years, referred because of gynecomastia (70), cryptorchism (45), precocious puberty (11), palpable thickenings of the spermatic cord (30) and asymmetry of testicular size (24). Ultrasound examination was carried out with Acuson 128 XP, linear transducer 7.5 MHz, along with color flow Doppler (and/or Sequoia, linear transducer 8-15 MHz). RESULTS: Testes in the inguinal canals at different levels were visualised in all boys with unilateral or bilateral cryptorchism. Varicocele were seen in 19 boys with gynecomastia, epididymal cysts in 10, microlithiasis in 3 cases. Testicular volume in boys with precocious puberty exceeded 2 SD, additionally there was microlithiasis in one patient, in 2 patients varicocele and in one boy tumor was found (Leydig's cell tumor). Varices were left-sided in 95% boys with varicocele, in 5% they were bilateral at different stage. Additionally in one patient hygroma of the spermatic cord was found. Asymmetry of testicular size was caused by hydrocele in 16 patients and varicocele in 8 cases. CONCLUSIONS: Ultrasound is supplementary to the physical examination of testes, and in many cases it enables to reveal lesions inaccessible in the clinical examination. Considering its non-invasive character and high-resolution, ultrasound is a useful imaging method of the scrotal structure in children.

[GnRH-dependent precocious puberty in a boy with Leydig-cell tumor]. / Przedwczesne dojrzewanie GnRH-zalezne u chlopca z guzem z komórek Leydiga.

GnRH-dependent precocious puberty in a boy with Leydig-cell tumor is presented. Precocious activation of the hypothalamo-pituitary axis was caused by long-term exposition to sex-steroids. Long-acting LHRH-analog treatment suppressed the process of precocious puberty.