POU6F2 mutation in humans with pubertal failure alters GnRH transcript expression.

Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by the absence of pubertal development and subsequent impaired fertility often due to gonadotropin-releasing hormone (GnRH) deficits. Exome sequencing of two independent cohorts of IHH patients identified 12 rare missense variants in POU6F2 in 15 patients. POU6F2 encodes two distinct isoforms. In the adult mouse, expression of both isoform1 and isoform2 was detected in the brain, pituitary, and gonads. However, only isoform1 was detected in mouse primary GnRH cells and three immortalized GnRH cell lines, two mouse and one human. To date, the function of isoform2 has been verified as a transcription factor, while the function of isoform1 has been unknown. In the present report, bioinformatics and cell assays on a human-derived GnRH cell line reveal a novel function for isoform1, demonstrating it can act as a transcriptional regulator, decreasing GNRH1 expression. In addition, the impact of the two most prevalent POU6F2 variants, identified in five IHH patients, that were located at/or close to the DNA-binding domain was examined. Notably, one of these mutations prevented the repression of GnRH transcripts by isoform1. Normally, GnRH transcription increases as GnRH cells mature as they near migrate into the brain. Augmentation earlier during development can disrupt normal GnRH cell migration, consistent with some POU6F2 variants contributing to the IHH pathogenesis.

Mental status and physical activity in patients with homozygous familial hypercholesterolemia: A subgroup analysis of a nationwide survey (A-HIT1 registry).

BACKGROUND: Homozygous familial hypercholesterolemia (HoFH) is a rare, life-threatening disease due to high serum low-density lipoprotein (LDL) cholesterol levels. LDL cholesterol-lowering interventions are fundamental for patients with HoFH. OBJECTIVE: It was aimed to investigate the association between the mental status of patients with HoFH and healthy lifestyle behaviors. METHODS: This subgroup analysis of the A-HIT1 population included the data of patients aged ≥18 years with a clinical diagnosis of HoFH undergoing therapeutic LDL apheresis. Besides the demographic and clinical characteristics of patients, healthy lifestyle behaviors were assessed, and psychiatric symptoms were screened by Symptom Check List (SCL-90-R). RESULTS: The highest percentage for pathology was observed in dimensions of obsessive-compulsive, somatization, interpersonal sensitivity, and depression in SCL-90-R. Patients with any cardiovascular condition have more psychiatric symptoms in different fields of SCL-90-R. The outcomes of the correlative analysis indicated that lower the age of the first coronary event better the psychiatric status, probably denoting a better adaptation to disease and its treatment. Among 68 patients, 36 patients were not exercising regularly. Patients with regular physical activity had significantly lower scores in most dimensions of SCL-90-R and there was no association between regular physical activity and other investigated variables. The strongest predictor of regular exercising was global severity index of SCL-90-R. CONCLUSION: In the HoFH population, there was a high prevalence of mental disturbances. Better psychiatric status was associated with regular exercising. Therefore, assessing the mental status of patients with HoFH and referring patients in need, to a psychiatrist, may improve the outcome of patients.

Clinical management, psychosocial characteristics, and quality of life in patients with homozygous familial hypercholesterolemia undergoing LDL-apheresis in Turkey: Results of a nationwide survey (A-HIT1 registry).

BACKGROUND: Homozygous familial hypercholesterolemia (HoFH) is a rare, life-threatening inherited disease leading to early-onset atherosclerosis and associated morbidity. Because of its rarity, longitudinal data on the management of HoFH in the real world are lacking, particularly on the impact the condition has on quality of life (QoL), including the impact of the extracorporeal lipid removal procedure apheresis (LA). METHODS: The A-HIT1 study included 88 patients with HoFH aged ≥12 years receiving regular LA in 19 centers in Turkey. Demographic and disease characteristics data were obtained. For patients aged ≥18 years, additional data on psychosocial status were obtained via the SF-36 score, the Hospital Anxiety and Depression Scale, and a HoFH-specific questionnaire. RESULTS: There was no standardized approach to therapy between centers. Mean (±SD) frequency of LA sessions was every 19.9 (±14) days, with only 11.6% receiving LA weekly, and 85% of patients were not willing to increase LA frequency. The most common concerns of patients were disease prognosis (31%), and physical, aesthetic, and psychological problems (27.5%, 15.9%, and 11.6%, respectively). Lower age at diagnosis was associated with better QoL, lower anxiety, improved functioning, and greater emotional well-being compared to later diagnosis. CONCLUSIONS: These findings demonstrate that adult patients with HoFH undergoing LA, experience significant impairment of QoL with an increased risk of depression. From patients' point of view, LA is time-consuming, uncomfortable, and difficult to cope with. The speed of diagnosis and referral has a considerable impact on patient well-being.

What have we learned from Turkish familial hypercholesterolemia registries (A-HIT1 and A-HIT2)?

BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is a common genetic disease of high-level cholesterol leading to premature atherosclerosis. One of the key aspects to overcome FH burden is the generation of large-scale reliable data in terms of registries. This manuscript underlines the important results of nation-wide Turkish FH registries (A-HIT1 and A-HIT2). METHODS: A-HIT1 is a survey of homozygous FH patients undergoing low density lipoprotein (LDL) apheresis (LA). A-HIT2 is a registry of adult FH patients (homozygous and heterozygous) admitted to outpatient clinics. Both registries used clinical diagnosis of FH. RESULTS: A-HIT1 evaluated 88 patients (27 ±â€¯11 years, 41 women) in 19 centers. All patients were receiving regular LA. There was a 7.37 ±â€¯7.1-year delay between diagnosis and initiation of LA. LDL-cholesterol levels reached the target only in 5 cases. Mean frequency of apheresis sessions was 19 ±â€¯13 days. None of the centers had a standardized approach for LA. Mean frequency of apheresis sessions was every 19 ±â€¯13 (7-90) days. Only 2 centers were aware of the target LDL levels. A-HIT2 enrolled 1071 FH patients (53 ±â€¯8 years, 606 women) from 31 outpatients clinics specialized in cardiology (27), internal medicine (1), and endocrinology (3); 96.4% were heterozygous. 459 patients were on statin treatment. LDL targets were attained in 23 patients (2.1% of the whole population, 5% receiving statin) on treatment. However, 66% of statin-receiving patients were on intense doses of statins. Awareness of FH was 9.5% in the whole patient population. CONCLUSIONS: The first nationwide FH registries revealed that FH is still undertreated even in specialized centers in Turkey. Additional effective treatment regiments are urgently needed.

A nation-wide survey of patients with homozygous familial hypercholesterolemia phenotype undergoing LDL-apheresis in Turkey (A-HIT 1 registry).

BACKGROUND AND AIMS: Homozygous familial hypercholesterolemia (HoFH) is a genetic condition characterized by lethally high levels of low-density lipoprotein cholesterol (LDL-C) from birth, and requires rapid and aggressive intervention to prevent death due to coronary heart disease and/or atherosclerosis. Where available, lipoprotein apheresis (LA) is the mainstay of treatment to promote survival. METHODS: A-HIT1 registry was conducted with the aim of providing insight to the real-life management of HoFH patients undergoing LA in Turkey, where LA procedures are fully reimbursed and widely available. Participating centers provided patient information, including family history, treatment patterns and relevant laboratory values, via a standard questionnaire. RESULTS: The study evaluated 88 patients (mean age: 27 ±â€¯11 years, 41 women) in 19 centers. All patients were receiving regular LA with a clinical diagnosis of HoFH. Mean age at first symptom disease was 10 ±â€¯10 years, and at diagnosis it was 12 ±â€¯11 years; 74.7% were diagnosed before age 15 years; and only 31% before the age of 7. First referral of most patients was to pediatricians. Early onset coronary artery disease was present in 57.8% of patients. Mean age at first LA was 21 ±â€¯12 years. Only 11 (12.5%) patients were undergoing LA weekly. Mean frequency of apheresis sessions was 19 ±â€¯13 days. For the last four LA sessions, LDL-C levels reached the target in only in 5.7% of patients. CONCLUSIONS: Diagnosis of HoFH is delayed, and LDL targets are not reached. LA frequencies are not optimal. Urgent attention is needed to support the survival of patients with HoFH.

The Presence of Demodex Folliculorum in Various Obese Groups According to BMI Levels.

BACKGROUND: This study aimed to detect the presence of the parasite Demodex folliculorum (DF) in various obese groups according to BMI Levels. MATERIALS AND METHODS: A total of 182 patients (40.8 ± 14.8 years, min-max age 19 - 73 years) were enrolled in the study, of those 65 (35.7%) were female and 117 (64.3%) were male. They had previously applied to Mustafa Kemal University (Faculty of Medicine, Endocrine Outpatient Clinic) during 2012. A standardized skin surface biopsy method was used to research the existence of DF. Patients were classified into four main groups, including: obese (n = 89), overweight (n = 31), normal (n = 32), and underweight (n = 30). RESULTS: There was no significant difference between groups in terms of age and sex. The total DF positivity was 19 (21.3%) in obese patients. Among those with positive DF, the mean BMI was 35.7 ± 12.1 kg/m(2), while those with negative DF had a mean BMI of 29.2 ± 9.2 kg/m(2). There was a significant difference between two groups (P = 0.002). Also, the underweight group has significantly higher DF positivity in comparison to the normal weight group. CONCLUSION: The DF positivity was significantly higher in obese patients in accordance with the physiopathologic nature of the disease.

Mortal quintet of sickle cell diseases.

BACKGROUND: Sickle cell diseases (SCDs) are chronic inflammatory processes on capillary level. We tried to understand some possible correlations between stroke and severity of SCDs. METHODS: All patients with SCDs were taken into the study. RESULTS: The study included 343 patients (174 males and 169 females). There were 30 cases (8.7%) with stroke. The mean ages were similar in both groups (32.5 versus 29.1 years in the stroke group and other, respectively, P>0.05). The female ratios were similar in both groups, too (43.3% versus 49.8%, respectively, P>0.05). Prevalences of associated thalassemia minors were also similar in them (73.3% versus 65.1%, respectively, P>0.05). Smoking was higher among the stroke cases, significantly (26.6% versus 13.0%, P<0.05). Mean white blood cell count, hematocrit value, and mean platelet count of the peripheric blood were similar in both groups (P>0.05 for all). On the other hand, although the painful crises per year, tonsilectomy, priapism, ileus, pulmonary hypertension, chronic obstructive pulmonary disease, coronary heart disease, chronic renal disease, rheumatic heart disease, avascular necrosis of bones, cirrhosis, and mortality were all higher in the stroke group, the differences were only significant for acute chest syndrome (ACS), digital clubbing, and leg ulcers (P<0.05 for all), probably due to the small sample size of the stroke group. CONCLUSION: SCDs and smoking are chronic destructive processes on endothelium, and both terminate with early organ failures in life. Probably smoking, digital clubbing, leg ulcers, ACS, and stroke are mortal quintet of the SCDs that may indicate shortened survival in such patients.

Tonsilectomy in sickle cell diseases.

BACKGROUND: We tried to understand whether or not there are lowered prevalences of terminal consequences of sickle cell diseases (SCDs) with tonsilectomy. METHODS: All cases with SCDs were taken into the study. RESULTS: The study included 334 patients (164 females). There were 27 cases with tonsilectomy and 307 cases without. The mean ages, female ratios, and prevalences of associated thalassemia minors and smoking were similar in both groups (P>0.05 for all). Although the white blood cell and platelet counts of peripheric blood were higher in patients without tonsilectomy, the mean hematocrit value was lower in them, but the differences were nonsignificant probably due to the small sample size of the tonsilectomy group (P>0.05 for all). Similarly, although the painful crises per year, digital clubbing, leg ulcers, pulmonary hypertension, chronic obstructive pulmonary disease, rheumatic heart disease, avascular necrosis of bone, cirrhosis, stroke, and mortality were higher in cases without tonsilectomy, the differences were nonsignificant probably due to the same reason again (P>0.05 for all). CONCLUSION: There may be an inverse relationship between prevalence of tonsilectomy and severity of SCDs, and the tonsils may act as chronic inflammatory foci accelerating the chronic endothelial damage all over the body in such patients.

Low serum levels of vitamin D in metastatic cancer patients: a case-control study.

Accompanying comorbidities observed during the cancer treatment usually affect the course and outcome of the therapy. Hypovitaminosis D, which is one of these conditions, is a resolvable problem, if recognized. In this study, we investigated whether the serum 25(OH)D levels of the patients who were presented to our outpatient clinic were different from the serum levels of the healthy population living in the same area. Our study included 90 patients who were presented to the Medical Oncology outpatient clinic and 90 age, gender, body mass index and ethnic origin matched controls without a known disease, who were presented to the outpatient clinics of the Departments of Internal Diseases and Family Medicine for routine controls. Blood count tests, detailed biochemistry tests (including serum levels of Cr, Ca and P), measurement of serum 25(OH)D levels and C-reactive protein were performed in serum samples of all of the patients and controls. Mean serum levels of 25(OH)D were 13.5 ng/ml (SD 5.1) in all cancer patients, 13.1 ng/ml (SD 4.2) in the patients who were presented for adjuvant therapy, 13.8 ng/ml (SD 5.5) in the patients who were presented at metastatic stage and 18.4 ng/ml (SD 12.5) in the controls. Mean serum CRP levels were 5.4 mg/dl (SD 1.2) in the control group, 8.4 mg/dl (SD 4.3) in the adjuvant therapy group and 20.3 (SD 16.8) in the patients with metastatic disease. Generally, all cancer patients (p 0.003) and the patients with metastatic cancer (p 0.004) had lower serum 25(OH)D levels compared to controls, and there was an inverse correlation between serum 25(OH)D and CRP levels in patients with metastatic cancer (p 0.036). In metastatic cancer patients, hypovitaminosis D may be a comorbidity and it is recommended to consider during initial evaluation and follow-up. Because it might improve these patients quality of life and chemotherapy adherence.

Acute chest syndrome in severity of sickle cell diseases.

BACKGROUND: Sickle cell diseases (SCDs) are chronic inflammatory processes on capillary level. We tried to understand whether or not there are some positive correlations between acute chest syndrome (ACS) and severity of SCDs. METHODS: All patients with the SCDs were taken into the study. RESULTS: The study included 337 cases (167 females). There were 15 patients (4.4%) with the ACS. The mean ages were similar in both groups (29.4 versus 29.7 years in the ACS group and other, respectively, P > 0.05). The female ratios were similar in both groups, too (60.0% versus 49.0%, respectively, P > 0.05). Additionally, prevalences of associated thalassemia minors were similar in them (66.6% versus 65.5%, respectively, P > 0.05). Smoking was higher in the ACS group (20.0% versus 13.9%), but the difference was nonsignificant (P > 0.05). Although the mean white blood cell count and hematocrit value of peripheric blood were higher in the ACS group, the mean platelet count was lower in them, but the differences were nonsignificant again (P > 0.05 for all). On the other hand, although the painful crises per year, tonsilectomy, priapism, ileus, digital clubbing, pulmonary hypertension, rheumatic heart disease, cirrhosis, stroke, and mortality were higher in the ACS group, the difference was only significant for the stroke (P < 0.05), probably due to the small sample size of the ACS group. CONCLUSION: SCDs are chronic destructive processes on capillaries iniatiating at birth, and terminate with early organ failures in life. Probably ACS is one of the terminal consequences of the inflammatory processes that may indicate shortened survival in such patients.

Effect of radioactive iodine therapy on lacrimal gland functions in patients with hyperthyroidism.

BACKGROUND: Radioactive iodine (RAI) therapy is preferred in the treatment of hyperthyroidism because of its effectiveness, noninvasiveness, and low costs. I has been detected in extrathyroidal tissues, such as in gastric mucosa, salivary glands, and lacrimal glands. To the best of our knowledge, there is no publication concerning the effects of RAI therapy for hyperthyroidism on tear production. In the present study, we evaluated whether or not the lacrimal glands are affected after RAI therapy when compared with pretreatment period. METHODS: The Schirmer and tear break-up time (TBUT) tests were used to assess 32 eyes of 16 patients with conditions that were diagnosed as hyperthyroidism before and at 3 and 6 months after RAI treatment. In addition, pretreatment values of patients were compared with that of controls. It was evaluated whether or not a correlation exists between the results and the dose or iodine uptake values. RESULTS: There was no significant difference between pretreatment values of Schirmer and TBUT tests obtained in the patient group and those of the control group (P > 0.05). In the patient group, there was a significant difference between the posttreatment and pretreatment values (P < 0.05). There was a positive correlation between uptake values obtained at 24 hours and the values obtained by TBUT and Schirmer tests on both eyes at 3 and 6 months. At 6 months, the uptake value at 24 hours was 28.83 ± 60 for both eyes in patients with TBUT test values less than 10, whereas it was 39.25 ± 7.88 for the right eye and 39.00 ± 6.85 for the left eyes in patients with TBUT test values greater than 10. The difference was statistically significant (P < 0.05). CONCLUSIONS: In our study, we concluded that the decrease in mucin and aqueous production occurs due to affected lacrimal glands by RAI therapy; however, this effect is not dose dependent.

Acrodysostosis associated with hypercalcemia.

An 18-year-old man was admitted to the clinic complaining of deterioration in the function of his hands and feet. The clinical examination revealed that his movements were clumsy and that he had disproportionally short limbs. In addition, he also had facial abnormalities of frontal bossing, hypertelorism, maxillary hypoplasia, broad low nasal bridge, short upturned nose with anteverted nostrils and triangular mouth. All extremities appeared short with stubby fingers and toes and with broad hands and wrinkling of the dorsal skin. Chromosomal analysis showed a normal (46, XY) karyotype. X-ray studies revealed broad, short metacarpals and phalanges with cone-shaped epiphyses and brachycdactyly and a diagnosis of peripheral dysostosis was confirmed by the characteristic radiographic appearance of the hands. Serum calcium and alkaline phosphatase levels were high, parathormone (PTH) was low, but 25 (OH) Vitamin D, albumin, and 24 hour urine calcium levels were in the normal range. Based on these findings, a diagnosis of acrodysostosis associated with hypercalcemia was made. To the best of our knowledge, this represents the first description of this syndrome.

The effect of blood glucose regulation on the presence of opportunistic Demodex folliculorum mites in patients with type 2 diabetes mellitus.

OBJECTIVES: To measure the rate of Demodex folliculorum mite infestation in patients with type 2 diabetes mellitus and to investigate if it was related to blood glucose control. METHODS: Patients with type 2 diabetes were classified according to their glycosylated haemoglobin (HbA(1c)) level into two groups: a well controlled blood glucose group (HbA(1c) ≤ 7%) and a poorly controlled blood glucose group (HbA(1c) > 7%). A standardized skin surface biopsy method was used to determine if the patients had D. folliculorum infestation (>5 mites/cm² of skin). RESULTS: A total of 69 patients (38 female) were enrolled in the study. Seventeen (24.6%) patients had D. folliculorum infestation. There were no significant differences in age, sex or body mass index between patients with and without D. folliculorum infestations. A significantly higher proportion of patients with poor blood glucose control had D. folliculorum infestation compared with patients with well controlled blood glucose. CONCLUSIONS: These current findings suggest that poor blood glucose regulation increases the susceptibility to D. folliculorum mite infestation in patients with type 2 diabetes.

The investigation of total PSA, free PSA, and free/total PSA ratio in patients with liver cirrhosis patients according to Child-Pugh score.

OBJECTIVE: To investigate the total prostate-specific antigen (tPSA), free PSA (fPSA), and free/total PSA (fPSA/tPSA) ratio in patients with liver cirrhosis (LC) according to the severity of hepatic insufficiency. METHODS: Eighty-two male patients with LC were studied. The severity of liver disease was categorized by Child-Pugh score (Child-Pugh A, B, and C). Forty-two age-matched healthy subjects were used as a control group. The tPSA, fPSA, fPSA/tPSA ratio, total prostate volume (TPV), total testosterone (TT), and total protein (TP) were measured. The LC group was compared with the control group in terms of these parameters. In addition, intra-comparison and inter-comparison was made between all the Child-Pugh groups and normal subjects, in terms of these parameters. RESULTS: The tPSA and fPSA levels in LC cases, Child-Pugh A, Child-Pugh B, and Child-Pugh C groups were significantly decreased compared with the control group. The ratio of fPSA/tPSA in the LC subjects and Child-Pugh A groups significantly increased compared with the control group. TT, TP levels, and TPV in patients with LC were significantly lower compared with the control group and the results were significantly correlated with the Child-Pugh score. CONCLUSION: The present study reveals that tPSA and fPSA were decreased in patients with LC in comparison to healthy subjects in terms of 3 mechanisms. First, it might be due to shrunken prostatic volume. Second, it also resulted in decreased levels of testosterone because of the abnormality of hypothalamic-pituitary-testicular axis. Third, it might be the diminished serum protein level in the composition of the PSA.

Thyroid hemiagenesis, ectopic submandibular thyroid tissue, and apparent persistent subclinical thyrotoxicosis.

BACKGROUND: Ectopic thyroid tissue (ETT) is a rare embryological abnormality characterized by the occurrence of thyroid tissue in a site other than its usual location. Thyroid hemiagenesis (HA) is also a very rare abnormality in which one thyroid lobe does not develop properly during embryology. We report a patient with left HA, submandibular ETT, and persistent mildly suppressed serum thyrotropin (TSH). PATIENT: A 38-year-old female patient was admitted with complaints of sweating and palpitations. She had no symptoms of neck compression. Thyroid ultrasonography revealed heterogeneity and hypoechogenicity of the right lobe and absence of the left lobe, the latter being confirmed by computed tomography. There was no ETT in the neck. A thyroid Tc-99m pertechnetate scan demonstrated two distinct areas of radiotracer uptake, one in the right lobe of the thyroid gland and one in the right submandibular region and lobe, but no uptake in the left thyroid bed. The serum free triiodothyronine was 2.89 pg/mL (2.5-3.9 pg/mL), and the serum free thyroxine was 0.86 ng/dL (0.61-1.12 ng/mL). The serum TSH was 0.11 mIU/L (0.34-5.60 mIU/L). CONCLUSIONS: This may be the first reported patient with HA and submandibular ETT. The patient probably also had thyroiditis with mild intermittent thyrotoxicosis based on her suppressed TSH and ultrasonography imaging of the right thyroid lobe.

Gynecomastia: a rare complication of isoretinoin?

Isotretinoin is a retinoic acid derivative mostly used in the treatment of cystic acne vulgaris. The adverse effects of isotretinoin are well defined being the major limitation factor for its usage. The decrement of testosterone during isoretinoin treatment is defined in literature. We present a case with 20 years old man who developed gynecomastia after treatment with isotretinoin. To the best of our knowledge, this is the third report of the development of gynecomastia after isotretinoin treatment.

Pituitary apoplexy due to thyroxine therapy in a patient with congenital hypothyroidism.

A 24-year-old woman was admitted with general weakness, umbilical swelling, developmental delay, speech disorder, constipation, gait problem. Her findings were umbilical hernia, xerosis, dry hair, and short stature. After thyroxine treatment, she also had headache, vomiting, and palpitation, lack of appetite, and sleep disturbance. Pituitary magnetic resonance imaging revealed a heterogeneous mass at the central part of the gland on coronal section and it was interpreted as pituitary apoplexy. In the current case, the patient with congenital hypothyroidism (CH) developed pituitary apoplexy (PA) after thyroxine therapy. Therefore, it is suggested that the complaints were related to PA rather than adrenal insufficiency. Here we describe a case report evaluating PA in a patient with thyrotrophic pituitary adenoma due to CH. To the best of our knowledge, this is the first case in terms of PA associated with CH after thyroxine therapy in the literature.

Investigation of parvovirus B19 seroprevalence, endothelin-1 synthesis, and nitric oxide levels in the etiology of essential hypertension.

BACKGROUND AND AIMS: Many studies have focused on the role of pathogen infection in hypertension (HT). It has been postulated that increased vascular tonus in HT is basically related to the imbalance between vasodilator, such as nitric oxide (NO), and vasoconstrictor, such as endothelin-1 (ET-1), substances secreted by endothelium. The aim of the present study was to investigate the seroprevalence of human parvovirus B19 (HPV B19) in the etiology of essential HT and the effect of HPV B19 on ET-1 and NO levels in this disorder. MATERIALS AND METHODS: A total of 135 participants were enrolled in the study (90 patient and 45 controls). Antibodies to HPV B19 and ET-1 were measured by enzyme-linked immunosorbent assay method. Nitric oxide levels were calculated according to the Griess reaction. RESULTS: Of the total participants, 27 patients (30%) and 7 control subjects (15.6%) had IgM positive (P = .068), whereas 27 patients (30%) and 14 control subjects (31.1%) had IgG positive (P = .895). There was no statistical difference between patients and control subjects in terms of serum ET-1 and NO levels. CONCLUSIONS: The role of HPV B19 in the etiology of essential HT was not shown in the present study. A larger sample may be needed for the investigation of these relations.

A case of asymptomatic riedel thyroiditis with follicular adenoma in a patient with a multinodular goiter: an unusual association.

BACKGROUND: Riedel's thyroiditis (RT) is a rare inflammatory disease that results in fibrosis of the thyroid gland and invasion to the surrounding structures of the neck. Follicular adenoma (FA) of the thyroid is the most common benign neoplasm of the gland. PATIENT FINDINGS: A 42-year-old woman was referred to the outpatient clinic due to a multinodular goiter and thyroiditis. The patient was euthyroid and thyroid function tests were within normal limits. Thyroid antibodies (thyroid peroxidase antibody and thyroglobulin antibody) were high. Thyroid ultrasonography showed multiple iso-hypoechoic nodules and thyroiditis. Fine-needle aspiration cytology was performed, and it was consistent with 'suspicious for a follicular neoplasm' according to the Bethesda system. Due to the clinical findings, which included weight loss and sweating, and the cytological results indicative of a follicular neoplasm, the patient underwent a total thyroidectomy. The histopathological diagnosis was RT associated with FA. The patient was started on thyroid hormone (thyroxine) replacement therapy after surgery and was evaluated for additional fibrosis related to RT. CONCLUSIONS: To our knowledge, this is the first case of RT associated with FA in an asymptomatic patient with a multinodular goiter and high thyroid antibodies reported in the literature.