Journal of pediatric endocrinology & metabolism : JPEM最新文献

{"title":"Children and adolescents with type 1 diabetes mellitus in Nigeria: clinical characteristics and compliance with care.","authors":"Idowu O Senbanjo, Ibironke J Akinola, Umar I Umar, Chineme H Anyabolu, Olufunmilola O Abolurin, Adesola O Adekoya, Olufunmilayo F Adeniyi, Akinlolu A Adepoju, Mohammad A Salisu, Garba D Gwarzo, Oluwatosin E Olorunmoteni, Osagie J Ugowe, Salma Suwaid, Oluwakemi O Ashubu, Musili B Fetuga, Abiola O Oduwole","doi":"10.1515/jpem-2022-0290","DOIUrl":"https://doi.org/10.1515/jpem-2022-0290","url":null,"abstract":"Abstract Objectives The prevalence of type 1 diabetes mellitus (T1DM) is increasing in most developed and developing countries. This study described the clinical characteristics and compliance with care among Nigerian children and adolescents with T1DM. Methods This was a cross-sectional descriptive multi-center study of children seen at the paediatric endocrinology clinic of seven selected tertiary health facilities in Nigeria. Information was collected on socio-demographics, clinical characteristics and compliance of the children with dietary recommendations and insulin therapy. Compliance with dietary recommendations and insulin therapy was graded as either good or poor based on defined criteria. Results The mean age of children was 13.1 ± 4.7 years. The mean age of children at the diagnosis of T1DM was 9.9 ± 4.2 years. Sixty-nine (60%) children were female while about half (47.8%) of the children were from the lower socioeconomic class. Compliance with insulin administration was good in 39.1% of the children and was significantly associated with the father’s (p=0.001) and mother’s educational status (p=0.024) while compliance with dietary recommendations was good in 20.0% of the children and was significantly associated with mother’s educational status (p=0.034) and family socioeconomic class (p=0.010). Only the mother’s level of education was independently and significantly associated with compliance to recommendations on insulin therapy (OR 4.2, 95% CI=1.5–11.6, p=0.007). Conclusions The compliance of children with dietary recommendations and insulin therapy was poor. Efforts should be strengthened at all healthcare facilities to educate parents on the need for compliance with management guidelines.","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1377-1384"},"PeriodicalIF":1.4,"publicationDate":"2022-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33489701","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Normal or elevated prolactin is a good indicator to show pituitary stalk interruption syndrome in patients with multiple pituitary hormone deficiency.","authors":"Erdal Eren,&nbsp;Yasemin Denkboy Ongen,&nbsp;Taner Ozgur,&nbsp;Rifat Ozpar,&nbsp;Ozgecan Demirbas,&nbsp;Zeynep Yazici,&nbsp;Omer Tarim","doi":"10.1515/jpem-2022-0366","DOIUrl":"https://doi.org/10.1515/jpem-2022-0366","url":null,"abstract":"<p><strong>Objectives: </strong>To determine the importance of serum prolactin (PRL) in the detection of pituitary stalk interruption syndrome (PSIS) in children with multiple pituitary hormone deficiency (MPHD). We hypothesized that PRL elevation might be a diagnostic indicator of pituitary stalk pathologies.</p><p><strong>Methods: </strong>Clinical, radiological, and laboratory features of the 50 cases of MPHD were studied.</p><p><strong>Results: </strong>The median age at presentation of the 50 cases (52%, n=26 were female) was 6.61 (0.02-18.9) years. PSIS was detected in 60% (n=30), pituitary hypoplasia in 32% (n=16), partial empty sella in 6% (n=3), and only 2% (n=1) was reported as normal. Out of 50 patients, 21.3% (n=10) were hypoprolactinemic, 44.7% (n=19) were normoprolactinemic, and 34% (n=16) were hyperprolactinemic. The median PRL value was 27.85 (4.21-130) ng/mL in patients with PSIS and 5.57 (0-41.8) ng/mL in patients without PSIS. Additional hormone deficiencies, especially ACTH and LH were detected in follow-up.</p><p><strong>Conclusions: </strong>Patients with normal or high prolactin levels deserve special attention regarding the possibility of PSIS. Furthermore, we emphasize the importance of regular follow-up and monitoring for multiple pituitary hormone deficiencies in all patients with a single pituitary hormone deficiency.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1394-1400"},"PeriodicalIF":1.4,"publicationDate":"2022-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33469553","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effects of exercise combined with diet intervention on body composition and serum biochemical markers in adolescents with obesity: a systematic review and meta-analysis.","authors":"Liangyu Zhao, Xiaosheng Dong, Yan Gao, Zhihao Jia, Suyue Han, Juntao Zhang, Yubo Gao","doi":"10.1515/jpem-2022-0193","DOIUrl":"10.1515/jpem-2022-0193","url":null,"abstract":"<p><strong>Background: </strong>This systematic review aims to evaluate the effects of exercise combined with diet (ECWD), exercise alone, diet alone, and no intervention on body composition and serum biochemical markers in adolescents with obesity to provide reference for solving the metabolic disorders of adolescents caused by obesity.</p><p><strong>Contents: </strong>Studies published before January 5, 2021 were retrieved from PubMed, Web of Science, Ovid, Cochrane Library, China National Knowledge Infrastructure (CNKI), Wanfang data, VIP database, and SinoMed. Randomized controlled trials with an age between 10 and 20 years, body mass index (BMI) ≥28 kg/m² or ≥95th percentiles, no history of endocrine and metabolic diseases, heart disease, hematologic disease, and so on before the trial were included.</p><p><strong>Summary: </strong>Fifteen of the 50,155 studies met the criteria. Meta-analysis showed that ECWD was more effective in reducing BMI (kg/m²) (-2.45 kg/m², 95% CI: -3.06; -1.85) and fat thickness of back (-13.77 mm, 95% CI: -15.92; -11.62), abdomen (-11.56 mm, 95% CI: -14.04; -9.09), and upper arm (-14.81 mm, 95% CI: -16.74; -12.89) than other interventions; in reducing body fat (-7.03 kg, 95% CI: -9.77; -4.29) and thigh circumference (-4.05 cm, 95% CI: -5.58; -2.52), ECWD and diet alone were more effective than exercise alone; ECWD and exercise alone were more effective in reducing waist circumference (-6.05 cm, 95% CI: -8.37; -3.72), waist-to-hip ratio (WHR; -0.06, 95% CI: -0.11; -0.01), upper arm circumference (-2.57 cm, 95% CI: -3.70; -1.45), triglycerides (TG; -0.30 mmol/L, 95% CI: -0.45; -0.14), total cholesterol (TC; -0.30 mmol/L, 95% CI: -0.59; -0.01), and low density lipoprotein (LDL; -0.22 mmol/L, 95% CI: -0.40; -0.04) than diet alone. ECWD also had effects on tumor necrosis factor-α (TNF-α), interleukin-6, leptin, and so on.</p><p><strong>Outlook: </strong>ECWD is more effective than exercise alone, diet alone, or no intervention in solving the problems of body shape and metabolic disorder of adolescents with obesity.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1319-1336"},"PeriodicalIF":0.0,"publicationDate":"2022-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40372081","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Disordered eating and behaviors among young Egyptians with type 1 diabetes: risk factors and comorbidities.","authors":"Safinaz Adel Elhabashy,&nbsp;Mariam William Abd ElMalak,&nbsp;Hanan Hany Elrassas,&nbsp;Rasha Adel Thabet","doi":"10.1515/jpem-2022-0336","DOIUrl":"https://doi.org/10.1515/jpem-2022-0336","url":null,"abstract":"<p><strong>Objectives: </strong>The study aimed to assess occurrence of eating disorders and its nature, associated risk factors, and comorbidities in a cohort of adolescents with type 1 diabetes (T1D).</p><p><strong>Methods: </strong>In this cross-sectional study, 138 patients were recruited to complete three questionnaires for assessment of eating disorder (ED); Eating Attitude Test (EAT-26) and Eat Behavior questionnaire (ORTO-15) and Eating Disorder Examination Questionnaire version 6 (EDE-Q6) to assess diabetes-related medical outcomes.</p><p><strong>Results: </strong>Patients were categorized as having an ED according to predetermined cutoff value for each questionnaire. Of the 138 patients, 24 (17.4%) had risk for EDs by EAT-26 score, 53 (38.4%) have got orthorexia nervosa by ORTO-15 and 45 (32.6%) were having a disordered eating behavior by EDE-Q6. Patients with risk of EDs had lower mean ORTO-15 score (p=0.01), and higher mean Global EDE-Q6 (p<0.001). A positive correlation was found between EAT-26 scores and both age (p<0.0001) and body mass index (p<0.0001). ORTO-15 score was correlated with duration of diabetes (p=0.0418). Diabetic ketoacidosis, peripheral neuropathy, and microalbuminuria occurred frequently in patients with ED high score. Hypoglycemic episodes were reported more in those with high EAT-26 or Global EDE-Q6 scores.</p><p><strong>Conclusions: </strong>Subclinical EDs and abnormal eating behaviors are common in Egyptian adolescents with T1D.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1385-1393"},"PeriodicalIF":1.4,"publicationDate":"2022-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40373318","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns.","authors":"Álvaro Martín-Rivada,&nbsp;Ana Cambra Conejero,&nbsp;Elena Martín-Hernández,&nbsp;Ana Moráis López,&nbsp;Amaya Bélanger-Quintana,&nbsp;Elvira Cañedo Villarroya,&nbsp;Pilar Quijada-Fraile,&nbsp;Marcelo Bellusci,&nbsp;Silvia Chumillas Calzada,&nbsp;Ana Bergua Martínez,&nbsp;Sinziana Stanescu,&nbsp;Mercedes Martínez-Pardo Casanova,&nbsp;Pedro Ruíz-Sala,&nbsp;Magdalena Ugarte,&nbsp;Belén Pérez González,&nbsp;Consuelo Pedrón-Giner","doi":"10.1515/jpem-2022-0340","DOIUrl":"https://doi.org/10.1515/jpem-2022-0340","url":null,"abstract":"<p><strong>Objectives: </strong>We present the results of our experience in the diagnosis and follow up of the positive cases for propionic, methylmalonic acidemias and cobalamin deficiencies (PA/MMA/MMAHC) since the Expanded Newborn Screening was implemented in Madrid Region.</p><p><strong>Methods: </strong>Dried blood samples were collected 48 h after birth. Amino acids and acylcarnitines were quantitated by MS/MS. Newborns with alterations were referred to the clinical centers for follow-up. Biochemical and molecular genetic studies for confirmation of a disease were performed.</p><p><strong>Results: </strong>In the period 2011-2020, 588,793 children were screened, being 953 of them were referred to clinical units for abnormal result (192 for elevated C3 levels). Among them, 88 were false positive cases, 85 maternal vitamin B12 deficiencies and 19 were confirmed to suffer an IEM (8 PA, 4 MMA, 7 MMAHC). Ten out 19 cases displayed symptoms before the NBS results (6 PA, 1 MMA, 3 MMAHC). C3, C16:1OH+C17 levels and C3/C2 and C3/Met ratios were higher in newborns with PA/MMA/MMAHC. Cases diagnosed with B12 deficiency had mean B12 levels of 187.6 ± 76.9 pg/mL and their mothers 213.7 ± 95.0; 5% of the mothers were vegetarian or had poor eating while 15% were diagnosed of pernicious anemia. Newborns and their mothers received treatment with B12 with different posology, normalizing their levels and the secondary alterations disappeared.</p><p><strong>Conclusions: </strong>Elevated C3 are a frequent cause for abnormal result in newborn screening with a high rate of false positive cases. Presymptomatic diagnosis of most of PA and some MMA/MMAHC is difficult. Vitamin B12 deficiency secondary to maternal deprivation is frequent with an heterogenous clinical and biochemical spectrum.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1223-1231"},"PeriodicalIF":1.4,"publicationDate":"2022-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40363821","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"No pubertal growth spurt, rapid bone maturation, and menarche post GnRHa treatment in girls with precocious puberty.","authors":"Audrey Briscoe,&nbsp;Katherine Chen,&nbsp;Karen O Klein","doi":"10.1515/jpem-2022-0389","DOIUrl":"https://doi.org/10.1515/jpem-2022-0389","url":null,"abstract":"<p><strong>Objectives: </strong>To study total growth, rate of bone maturation, and menarche after discontinuation of Gonadotropin releasing hormone agonist (GnRHa) treatment for central precocious puberty (CPP).</p><p><strong>Methods: </strong>Twenty girls with CPP on treatment with GnRHa were followed from discontinuation of treatment to final height (FH). Height, height velocity (HV), and bone age were measured every 6 months. Age at menarche was collected.</p><p><strong>Results: </strong>Once treatment is discontinued, rate of bone maturation (bone age [BA]/chronological [CA]) accelerated from 0.7 ± 0.3 at end of treatment to 1.2 ± 0.8 post treatment, similar to BA/CA prior to treatment. BA at treatment discontinuation ranged from 11-14 years. On average, treatment was stopped when CA was within 9 months of BA. All girls continued to grow from end of treatment to menarche averaging an increase of 4.7 ± 3.7 cm, with HV 3.2 ± 2.0 cm/year. Post-menarche they grew an additional 4.6 ± 2.1 cm, with HV 2.4 ± 1.9 cm/year. Acceleration of HV was not seen post treatment. The younger the BA at initiation or completion of treatment, the longer time to menarche. No one had menarche prior to a BA of 12.5 year.</p><p><strong>Conclusions: </strong>A pubertal growth spurt does not usually occur after treatment with GnRHa in girls with CPP. Rate of bone maturation accelerates post treatment. These factors are important in assessing optimal height outcome and decisions regarding cessation of treatment. This study will help clinicians give patients and families better estimates of growth and onset of menarche post treatment.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1401-1409"},"PeriodicalIF":1.4,"publicationDate":"2022-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40364563","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Continuous glucose monitoring in an infant with panhypopituitarism having hypoglycemia on growth hormone therapy.","authors":"Kaho Kiuchi,&nbsp;Takeshi Sato,&nbsp;Satsuki Nakano,&nbsp;Tomohiro Ishii,&nbsp;Tomonobu Hasegawa","doi":"10.1515/jpem-2022-0224","DOIUrl":"https://doi.org/10.1515/jpem-2022-0224","url":null,"abstract":"<p><strong>Objectives: </strong>The usefulness of continuous glucose monitoring (CGM) in infants with panhypopituitarism (PH) having hypoglycemia is yet to be explored. The potential adverse effects of growth hormone (GH) replacement therapy, such as hyperglycemia, cannot be comprehensively evaluated using the conventional measurement.</p><p><strong>Case presentation: </strong>A 2-month-old infant with PH, including severe GH deficiency, had hypoglycemia despite frequent feeding. Glucose levels were monitored using CGM before and after GH replacement therapy. The proportion of time for hypoglycemia decreased from 4.9 to 0% (p<0.017). Hyperglycemia did not increase. The CGM method did not contribute to any adverse events requiring intervention. Our patient only experienced minor bleeding and no episode of cellulitis.</p><p><strong>Conclusions: </strong>CGM is useful in controlling glucose levels in infants with hypoglycemia and PH.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1556-1559"},"PeriodicalIF":1.4,"publicationDate":"2022-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40364813","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Biochemical indicators of euthyroid sick syndrome in critically ill children.","authors":"Tolga Besci,&nbsp;Özge Besci,&nbsp;Gazi Arslan,&nbsp;Hande Ilgaz,&nbsp;Pınar Prencuva,&nbsp;Göktuğ Özdemir,&nbsp;Ayhan Abacı,&nbsp;Korcan Demir","doi":"10.1515/jpem-2022-0232","DOIUrl":"https://doi.org/10.1515/jpem-2022-0232","url":null,"abstract":"<p><strong>Objectives: </strong>This study aimed to determine the prevalence and predictors of euthyroid sick syndrome (ESS) in pediatric intensive care, and to establish a link between thyroid function tests and mortality.</p><p><strong>Methods: </strong>Between January 2015 and March 2020, children admitted to our pediatric intensive care unit (PICU) and tested for free triiodothyronine (fT3), free thyroxine (fT4), and thyrotropin (TSH) levels were included. Patients with decreased fT3, with normal or decreased fT4, and normal or decreased TSH levels were assigned to the ESS group. The association between biochemical indicators and ESS, as well as the relationship between fT3 and mortality, were examined.</p><p><strong>Results: </strong>A total of 141 (36%) of 386 children included to study were classified in the ESS group. The ESS group had a higher rate of 28-day mortality (12 [8.5%] vs. 9 [3.7%]). Blood urea nitrogen (BUN), albumin, platelet, lactate, and pediatric index of mortality 3 [PIM3 (%)] were significantly associated with ESS (odds ratios in order: 1.024, 0.422, 0.729, 1.208, 1.013). Multivariate regression analysis showed that BUN, albumin, platelet, and lactate were independently associated with ESS progression. The area under curve (AUC [95%CI]) for fT3 was 0.644 (0.555-0.789) to detect mortality. Children with a fT3 level lower than 2.31 pg/mL had significantly higher 28-day mortality (log rank test, p=0.001).</p><p><strong>Conclusions: </strong>Our study identified BUN, albumin, lactate, and platelet count as independent risk factors for ESS progression in children. Furthermore, our findings indicated a correlation between fT3 and mortality, which makes fT3 an ideal candidate to be included in mortality indices.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1285-1292"},"PeriodicalIF":1.4,"publicationDate":"2022-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40359694","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Management challenges of Rabson Mendenhall syndrome in a resource limited country: a case report.","authors":"Sommayya Aftab,&nbsp;Tahir Shaheen,&nbsp;Rameen Asif,&nbsp;Muhammad Nadeem Anjum,&nbsp;Anjum Saeed,&nbsp;Jaida Manzoor,&nbsp;Huma Arshad Cheema","doi":"10.1515/jpem-2022-0214","DOIUrl":"https://doi.org/10.1515/jpem-2022-0214","url":null,"abstract":"<p><strong>Objectives: </strong>Rabson Mendenhall syndrome  (RMS) is a rare form of insulin resistance syndrome caused by insulin receptor mutation. In term of severity, it lies at an intermediate point on spectrum of insulin resistance with Donohue syndrome flanking the severe and Type A insulin resistance at the mild end. We are reporting a 3.5-month-old boy with RMS along with its management challenges in a resource limited country.</p><p><strong>Case presentation: </strong>An infant presented at 3.5-month of an age with failure to thrive and fluctuating blood glucose level (hyperglycaemia and hypoglycaemia) along with clinical features of insulin resistance. He was found to have raised HbA1C, high insulin and C peptide level and a homozygous mutation in <i>INSR</i> gene c.1049C>T, (p.Ser350 Leu) confirming the diagnosis of RMS. He was managed with long-acting insulin (Detemir) along with frequent feeding.</p><p><strong>Conclusions: </strong>RMS in resource limited countries could be managed with frequent feeding along with insulin. Early diagnosis and management can improve long term outcome.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1429-1432"},"PeriodicalIF":1.4,"publicationDate":"2022-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40356973","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Thyroid function tests of iodine deficiency goiter can mimic thyroid hormone resistance alpha.","authors":"Sabitha Sasidharan Pillai,&nbsp;Jose Bernardo Quintos","doi":"10.1515/jpem-2022-0345","DOIUrl":"https://doi.org/10.1515/jpem-2022-0345","url":null,"abstract":"<p><strong>Objectives: </strong>Iodine deficiency goiter can develop in children on a restrictive diet and most have normal thyroid function. We report a 6-year-old girl with iodine deficiency goiter with thyroid function studies mimicking thyroid hormone resistance alpha. Thyroid hormones mediate its effects through thyroid hormone receptors alpha and beta. Biochemical picture of low/low-normal T4 and high/high-normal T3 levels, variably reduced reverse T3 and normal TSH is characteristic of thyroid hormone resistance alpha.</p><p><strong>Case presentation: </strong>A 6-year-old girl, born out of non-consanguineous marriage presented with goiter of 1.5 years duration. She was without symptoms of thyroid dysfunction. The patient was evaluated at one year of age for macrocephaly with cranial ultrasound which was normal. She had normal growth and development. Patient was vegan and was not on any medications or supplements. Laboratory work up showed TSH 5.03 uIU/mL (0.34-5.5), FT4 0.3 ng/dL (0.58-1.2), FT3 5.3 pg/mL (2.5-3.9), total T3 258 ng/dL (94-241), reverse T3 <5.0 ng/dL (8.3-22.9) and negative thyroglobulin antibody and thyroid peroxidase antibody. Thyroglobulin level was 1,098.8 ng/mL (<13 ug/L), and urine iodine 15.8 ug/L (<100 ug/L) confirming a diagnosis of iodine deficiency goiter. Patient was started on iodine supplements, 150 ug daily and repeat work up 3 months later were TSH: 2.717 uIU/mL, T3, total 182 ng/dL, T4, total 9.3 ug/dL, FT 4 2.1 ng/dL.</p><p><strong>Conclusions: </strong>Iodine deficiency goiter may present with low FT 4, elevated T3 and normal TSH mimicking thyroid hormone resistance alpha and should be considered in children on restrictive diet.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1433-1436"},"PeriodicalIF":1.4,"publicationDate":"2022-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33473529","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}