thyroid

Background: Hypoparathyroidism is well known to occur in thalassemia major patients, but it is thought to be uncommon and its incidence is considered to be decreasing with improvements in chelation therapy. The objective of this study was to assess the prevalence of parathyroid dysfunction in the first decade of life of the patients with thalassemia major. Patients and Methods: Ninety children with beta-thalassemia major (55 males and 35 females) with a mean age of 7.17±3.78 years (1-13 years) and age and sex matched control group of 60 healthy children (36 males and 24 females) with a mean age 6.98±3.66 years (1-13) years. Serum parathyroid hormone (PTH), serum total Calcium (Ca), serum phosphorus (P), serum alkaline phosphatase (ALP), serum 25-hydroxyvitamin D (25-OHD) and serum ferritin levels were measured. Result: PTH levels were higher than normal range in 23 (25.6%) patients with a mean value of 75.2±31.3 µg/mL compared to those having normal range level (35.3±15.2 µg/mL). Ca levels were found low in 11 patients (12.2%), and P levels were found high in 2 (2.22%) and low in 4 (4.44%) patients while high ALP levels were found in 6 (6.67%) patients. 25-OHD levels were low in all patients with a mean value of 24.95±5.82. Conclusion: Reports in the literature indicate that parathyroid dysfunction due to iron overload generally occurs in 2nd or 3rd decade of patients with thalassemia major. However, our study shows that PTH due to iron overload may develop in a significant number of thalassemia major patients, therefore, all thalassemics should be carefully watched for endocrine organ function such as hyperparathyroidism might occur even in the first decade of the patients with thalassemia major.

Rothmund-Thomson syndrome is a rare autosomal recessive disorder characterized by poikiloderma (skin atrophy, telangiectasia, hyper- and hypopigmentation), congenital skeletal abnormalities, short stature, premature aging, and increased risk of malignant disease. Two siblings with Rothmund-Thomson Syndrome showed the following characteristic features: severe growth failure, dystrophic nails, absent eyelashes/eyebrows, small hands, clinodactyly, microdontia and congential poikiloderma. In addition, delayed sexual development with cryptorchidism in the male and Hashimato thyroiditis in the female patient were detected. These cases are presented here because of these endocrine patterns, with the aim of drawing attention to the invisible aspects of Rothmund-Thomson syndrome.

SARS-CoV2 can induce multiple immunological and endocrinological changes. We report the case of a COVID-19 associated hyperthyroidism in a young female. Per definition the patient – because of having given birth six weeks previously - had a postpartum thyroiditis. However thus no antibodies were detected, the thyroiditis ceased without medication after the dissolving of the virus disease and the fT3/fT3-ratio proved a destructive thyreopathy as well as there was a close time link onset of the symptoms with the novel corona virus infection we argue it to be a COVID-19 induced thyrotoxicosis. This proves the ability of SARS-CoV-2 to alter thyroid function, therefore all COVID-19 patients should be monitored regarding endocrinological changes and TSH, fT3, fT4 should be assessed.

Papillary thyroid cancer (PTC) is the most common subtype of thyroid cancer and a highly curable malignancy [1]. However, despite its excellent prognosis, cervical lymph node metastases (CLNMs) are present in a significant percentage of patients with papillary thyroid cancer (PTC) (upto 50% - 60%) [2].

Introduction: Obesity defined as increased fatty mass is progressively rising in recently, even though its affects begins to all systems in childhood and adolescence periods, the most important morbidity and mortality reason of obesity is its effects on the cardiovascular system. Researches point out endothelial dysfunction and atherosclerosis as the reason of the cardiovascular system disease in obesity. The studies conducted on childhood period related to this subject are highly limited and the results of these are also controversial. Therefore in our study the effects of obesity on endothelial functions in children and adolescents was assessed by flow mediated dilation (FMD) method. In addition to that, effects of epidemiological, biochemical, hormonal and clinical features of cases to FMD were investigated. Material and method: A total number of 104 cases were cover in this study. Obese group (group 1) was consisted of 59 children whose body mass index (BMI) was ≥ 95th percentile and mean age was 12 ± 2.8 years old. The control group (group 2) consisted of 45 children whose body mass index (BMI) was between 25th -84th percentil and mean age was 11.4 ± 2.9 years old. The detailed history, epidemiological data and physical examination were performed. The population classified three groups according to sport activities. 97th percentile and higher values were accepted as morbid obesity. The blood pressure was measured with a mercury sphygmomanometer with utilizing the proper size cuff in compliance with the criterion used by the “National High Blood Pressure Education Program Working Group”. The complete blood count and biochemistry tests (renal and liver function tests, electrolytes, lipids, hsCRP) of the cases were analysed with biochemistry Roche Cobas Integra 800 and hormon assays of the cases (thyroid function tests, diurnal cortisol, ACTH, 17 OHP, prolactin, DHEA-S) were analysed by ECLIA method on Roche Elecsys 2010 device in the laboratory of our hospital. IR-HOMA values > 2.5 in prepuberal and > 4 in pubertal were defined as the insulin resistance. Bone ages of cases were evaluated with left hand wrist X-ray by using Greulich and Pyle Bone Age Atlas. flow mediated dilation (FMD) was used to assess the endothelial functions of all cases. The brachial artery was evaluated with SPG 12 MHz surface probes by using GE voluson ultrasound system in this method. FMD was expresses as percent (%) increase according to the basal vein dimension. 7% mean value was taken as the limit in the comparisons. Results: The ratio of male and female was 20/39 in group 1 and 14/31 in group 2. 32.3% of the cases in group 1 and 47.6% of the cases in group 2 were prepubertal. The waist and hip circumferences ratio of the group 1 (0.86 ± 0.05) was significantly higher than group 2 (0.80 ± 0.07). While there was no difference between groups 1 and 2 in terms of the birth weight, using duration period of vitamin D and beginning time to additional nutrition, breastfeeding duration of group 1 (10.6 ± 7.8 months) was significantly shorter than group 2 (14 ± 7.4 months). BMIs of the mothers in group 1 were statistically higher than the mothers in group 2 (27.5 ± 4.8 kg/m² and 24.3 ± 3.2 kg/m² respectively. The mean of IR-HOMA was 4 ± 2.9 in group 1 and 1.9 ± 0.8 in group 2 and there was the insulin resistance in 51% of the obese cases. The dyslipidemia was diagnosed in 38.5% of the cases in group 1. The systolic and diastolic blood pressures in group 1 (117 ± 12.2 mmHg and 73.7 ± 9.4 mmHg respectively) were significantly higher than in group 2 (107.5 ± 9.1 mmHg and 68.2 ± 7.1 mmHg respectively). Hypertension was determined in 25% of the cases included in group 1. The minimum values of FMD in groups 1 and 2 were 1.01% and 3.1% respectively. The maximum values of FMD in groups 1 and 2 were 9.7% and 15% respectively. The mean values of FMD was %5 ± 2.3 in group 1 and %8.1 ± 3.5 in group 2. Compared with group 2, group 1 demonstrated significantly impaired FMD. There was no association between FMD and the birth weight, breastfeeding duration, physical exercises in two groups. A negative correlation was found between FMD and BMI (p < 0.01, r = -0.402). The correlation was determined between FMD and BMI of the mother (p = 0.017, r = -0.305) and the presence of obese individuals in the family (p = 0.021, r =-0.413). It was found that a significant negative correlation between FMD and waist-hip circumference ratio (p = 0.003, r = -0.421). When each groups were assessed in terms of biochemical and hormonal characteristics, there was low negative correlation between FMD and uric acid level and strong negative correlation between FMD and ALT level were determined in group 1. Conclusion: In our study showed that the obesity begins in the childhood period may cause to the endothelial dysfunction. For this reason, according to our opinion, recognition prior indicators of endothelial dysfunction in early time may be helpful both to take the precautions required and to prevent cardiovascular complications in childhood and influences to the adult period. The rising sizes of the waist and hip circumferences, positive family history for obesity and obesity of the parents were determined as the most important parameters negative affecting FMD. Unlike the literature, the association between endothelial dysfunction and GGT level the indicator of the hepatosteatosis in obese children was also found as well as FMD and ALT have also a close association independent from BMI in this study. Thus, a different point of view was formed since ALT may possibly have a predictor value in the assessment of the endothelial functions and it is also found as a highlighted risk factors for the endothelial dysfunction in this study. Because of this reason, it can be recommended that when the liver function tests carry out in obese children it does not show only hepatosteatosis but also can be used as an early indicator of the cardiovascular complications of obesity. Another important subject to be emphasize that the ALT level in the childhood period may be an early cardiovascular risk indicator in both obese and nonobese children.

SARS-CoV-2 infection is associated with thyroid disorders. It has been reported that myxedema coma (MC) can be complicated with COVID-19. COVID-19-related thyroid disorders consist of a broad spectrum of thyroid dysfunction, from thyrotoxicosis to decompensated hypothyroidism. It is possible that both primary and central thyroid disorders are induced by COVID-19 due to systemic inflammatory and immune responses. We experienced two cases in which patients with COVID-19 developed MC with central hypothyroidism. It is likely that MC affected the severity of COVID-19. It is necessary to consider the existence of MC during SARS-CoV-2 infection. We propose the potential mechanisms.

Over the last few years, the prevalence of thyroid nodules has increased. There are multiple reasons: true increase in incidence and increase in investigations with better technology. Finding a nodule in the thyroid does lead to a flurry of investigations. 

Background: Myxedema is an extreme manifestation seen in patients with untreated hypothyroidism. It is a lethal endocrine emergency, which arises when a precipitating cause overwhelms the compensatory mechanisms of the hypothyroid state.Objectives: This case report aims to present a case of myxedema coma secondary to cretinism. It also aims to discuss how hypothyroidism leads to hypoventilation and eventually respiratory failure, as well as to discuss the epidemiology, pathophysiology, clinical manifestation, diagnosis, and management of a child with myxedema coma.Case presentation: This is a case of a 7-year-old female, diagnosed with congenital hypothyroidism at 5 months of age, but eventually was lost to follow-up. She came back after 7 years presenting with difficulty of breathing. She was seen hypothermic, obtunded, and in severe respiratory distress. She was severely stunted and underweight with coarse facial features. Initial laboratory work-up showed elevated Thyroid Stimulating Hormone (TSH) as well as decreased tri-iodothyronine (FT3) and thyroxine (FT4). She was immediately started on levothyroxine, with noted resolution of the edema and improvement in sensorium. There was also noted improvement in the patient’s ventilation and was sent home on Continuous Positive Airway Pressure (CPAP) while asleep.Conclusion: This case highlights the importance of having a high index of suspicion of its clinical manifestations, which could lead to earlier intervention thereby preventing further complications. A multidimensional approach is essential in managing this case, as various organ systems are involved in this condition.

Background: Human Immunodeficiency Virus (HIV) and thyroid function have been described. Prevalence pattern and atherogenic status significantly differ from HIV-negative control in several studies. Unfortunately, few studies have determined the prevalence of thyroid function and lipids among Nigerians living with HIV. Objective: This study is to evaluate thyroid hormones and lipid profiles in HIV-positive subjects attending a faith-based health facility in Anambra State Nigeria.Materials and methods: The serum concentration of Thyroid Stimulating Hormone (TSH), free Triiodothyronine (fT3), triiodothyronine (T3), free Thyroxine (fT4), Thyroxine (T4), Total Cholesterol [TC], Triglyceride [TG], High-Density Lipoprotein [HDL], Low-Density Lipoprotein [LDL] and Very Low-Density Lipoprotein [VLDL] was determined in 95 HIV positive subjects which include 48 patients who were on HAART- group 1 and 47 not on HAART- group 2; and compared to 30 HIV negative controls – group 3. Results: The level of TSH and fT3 was significantly (p < 0.05) higher in group 1 participants than in group 2 and the group 3 participants. The level of T4 was significantly higher in group 2 than in group 1 and group 3 participants. The level of T3 was significantly lower in Control participants in comparison to both HAART and non-HAART participants. The prevalence of fT4 dysfunction across the groups was significantly different from each other. The total mean of Cholesterol (163.5 ± 22.7), Triglyceride (163.5 ± 22.7), and Very Low-Density Lipoprotein (14.2 ± 2.4) of the HIV-positive participants were significantly (p < 0.05) lower than that of the HIV negative participants.Conclusion: The results obtained from this study indicate that serum levels of thyroid hormones may be used as baseline periodic markers during antiretroviral therapy and many people living with HIV may benefit from supplementation if appropriate.

Objective: Alazami syndrome (AS) is an infrequent genetic disorder inherited in an autosomal recessive pattern, characterized by the presence of multiple congenital abnormalities. This study explores a case of a 4-year-old girl with AS, examining symptoms, genetic factors, and treatment efficacy. Case report: A 4-year-old girl, born to consanguineous Jordanian parents, displayed dysmorphic features including low birth weight, microcephaly, hyperthyroidism, short stature, blue sclera, triangular-shaped face, deep-set eyes, narrow palpebral fissures, and a prominent forehead. Examination revealed height (92 cm) and weight (7.7 kg) below the 5th and 3rd percentiles respectively. Blood tests and renal ultrasound were normal. Whole exome sequencing (WES) identified a homozygous eight-base pair deletion within exon 5 of the LARP7 gene on chromosome 4q25, confirming the diagnosis of AS, an autosomal recessive disorder. This variant induces frameshift mutations leading to premature stop codons, suggesting a probable mechanism of illness via loss of function. Treatment involving growth monitoring and therapy led to significant improvements in height, weight, and communication skills within three months. Conclusion: We describe a rare autosomal recessive AS case due to consanguinity, with a frameshift mutation in the LARP7 gene found via WES. Our AS treatment program effectively alleviates symptoms and enhances developmental progress.

A 51-year-old female with a history of multinodular goitre presented with vomiting, abdominal discomfort, and generalized tiredness. Investigations revealed hypercalcemia (ionized calcium 1.41 mmol/L), hypokalaemia, suppressed parathyroid hormone, and significantly elevated free thyroxine (> 7.77 ng/dL) with a suppressed thyroid-stimulating hormone level consistent with hyperthyroidism. Further, the workup confirmed Graves’ disease as the underlying aetiology. Hyperthyroidism is occasionally associated with mild to moderate hypercalcemia, but severe hypercalcemia or hypercalcaemic crisis is an extremely rare complication. Prompt recognition and treatment are crucial to prevent life-threatening complications. The patient was treated with intravenous fluids, a low-calcium diet, zoledronic acid, carbimazole, and a beta-blocker, leading to improvement in her condition. This case highlights a rare occurrence of hypercalcaemic crisis in a patient with thyrotoxicosis due to Graves’ disease. Hyperthyroidism-induced hypercalcemia requires prompt recognition and multidisciplinary management involving endocrinologists, internists, and critical care specialists to prevent potentially life-threatening complications. Healthcare providers should consider the hypercalcaemic crisis in the differential diagnosis of hypercalcemia in the context of hyperthyroidism.