HIGH PREVALENCE OF HYPOTHYROIDISM IN SYSTEMIC LUPUS ERYTHEMATOSUS PATIENTS WITHOUT AN INCREASE IN CIRCULATING ANTI-THYROID ANTIBODIES.

OBJECTIVE: Because routine investigations are necessary for the early detection of thyroid disease, this study aimed to assess the prevalence of autoimmune thyroid disease (ATD) and thyroid dysfunction (TD) in patients with systemic lupus erythematosus (SLE). METHODS: Seventy-nine SLE patients (American College of Rheumatology criteria) and 159 control patients with no diagnosis of autoimmune diseases (except for ATD) were consecutively evaluated regarding changes in laboratory assessments of thyroid function and the presence of ATD. RESULTS: ATD was detected in 11.4% of the SLE patients and 13.8% of the control patients (P = .747), whereas TD was detected in 25.3 and 9.4% (P = .002), hypothyroidism was detected in 21.5 and 6.9% (P = .002), and hyperthyroidism was detected in 3.8 and 2.5% (P = .426) of the SLE and control patients, respectively. The mean duration of SLE was longer in patients with TD (P = .036). Mild hypothyroidism was more frequent in the SLE patients with anti-Smith antibodies (P = .029). CONCLUSION: Because hypothyroidism was more frequent in SLE patients and the frequency of ATD was high in both groups, the authors suggest that TSH and anti-thyroid antibody levels be assessed in SLE patients. ABBREVIATIONS: ACA = anti-cardiolipin antibodies; ANF = anti-nuclear factor; anti-CCP = anti-cyclic citrullinated peptide; anti-dsDNA = anti-double-stranded DNA; anti-RNP = anti-ribonucleoprotein; anti-Scl70 = anti-topoisomerase I antibodies; anti-SM = anti-Smith antigen antibodies; anti-SS-A/Ro = anti-Sjögren syndrome-related antigen A (Ro); anti-SS-B/La = anti-Sjögren syndrome-related antigen B (La); anti-Tg = anti-thyroglobulin; anti-TPO = anti-thyroid peroxidase; ATD = autoimmune thyroid disease; ENA = extractable nuclear antigen; fT4 = free thyroxine; OR = odds ratio; RF = rheumatoid factor; SLE = systemic lupus erythematosus; SLEDAI = SLE Disease Activity Index; TD = thyroid dysfunction; TSH = thyroid-stimulating hormone; TT3 = total triiodothyronine.

Clinical, hormonal, ovarian, and genetic aspects of 46,XX patients with congenital adrenal hyperplasia due to CYP17A1 defects.

OBJECTIVE: To perform a clinical, biochemical, and molecular evaluation of patients with CYP17A1 defects, including ovarian imaging. DESIGN: Retrospective study. SETTING: Tertiary care center. PATIENT(S): Sixteen patients with congenital adrenal hyperplasia due to CYP17A1 defects with a median chronological age of 20 years and belonging to 10 unrelated families. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Clinical and biochemical parameters, molecular diagnosis, ovarian imaging, and therapeutic management. RESULT(S): Seventy-one percent of patients presented with primary amenorrhea, 50% had no breast development, and pubic hair was absent or sparse in all patients; 88% had high blood pressure at diagnosis. Basal LH and P levels were high, and androgen levels were low in all patients. Ultrasound revealed ovarian enlargement in 68.7% and ovarian macrocysts in 62.5% of patients before treatment; three patients had a previous surgical correction of ovarian torsion or rupture. Molecular analysis revealed inactivating CYP17A1 mutations in all patients. The most prevalent mutation was p.W406R, and one patient bore a novel p.G478S/p.I223Nfs*10 compound heterozygous mutation. Treatment with dexamethasone, estrogen, and P resulted in reduction of ovarian volume. CONCLUSION(S): Amenorrhea, absent/sparse pubic hair, hypertension, and ovarian macrocysts, whichincrease the risk of ovarian torsion, are important elements in the diagnosis of 46,XX patients with CYP17A1 defects. High basal P levels in patients with hypergonadotropic hypogonadism point to the diagnosis of CYP17A1 defects. Fertility can be achieved in these patients with novel reproductive techniques.

[Prevalence of thyroid dysfunction and antithyroid antibodies in type 1 diabetic mellitus patients and their first degree relatives]. / Prevalência de disfunção tireoidiana e anticorpos antitireoidianos em pacientes portadores de diabetes melito tipo 1 e em seus familiares de primeiro grau.

UNLABELLED: Diabetes Mellius Type 1 (DM1) is frequently associated to Autoimmune Thyroid Disease (AITD). The prevalence of AITD among diabetic patients varies between 3 to 50% and the incidence is also big among their family members, when compared to the population in general. OBJECTIVES: To investigate the prevalence of AITD in patients with DM1; to evaluate possible differences concerning the clinical-evolutive behavior of DM1 among diabetic patients with or without AITD and to study the prevalence of AITD among the diabetes patients' relatives. MATERIALS AND METHODS: 124 prontuaries of diabetic patients (type 1) were revised and data was gathered concerning the thyroid function and the anti-thyroid antibodies. Patients with and without AITD were compared in relation to the level of glycosylated hemoglobin, the presence of acute and chronic complications, the age of the patient at the time of the diagnosis, time of evolution of the disease, daily dose of insulin and other factors. A control case study was conducted with 54 first degree relatives of the diabetic patients who took part in the study; the thyroid function as well as the presence of anti-thyroid antibodies were evaluated in 32 of those first degree relatives with AITD, and in 22 of those without AITD. RESULTS: The prevalence of AITD and of hormonal dysfunction among diabetic patients was 35.5% and 19.3%, respectively. No significant differences were found between groups in respect to clinical outcome or to diabetic chronic complications. However, prevalence of AITD and hormonal dysfunction were found to be higher among first degree relatives of diabetic patients with AITD than among relatives of diabetic patients without AITD. CONCLUSIONS: The prevalence of autoimmune thyroid disease in diabetic patients and in their first degree relatives is high. Thyroid function screening is therefore justified in these cases, especially in first degree relatives of diabetics with autoimmune thyroid disease.

Prevalência de disfunção tireoidiana e anticorpos antitireoidianos em pacientes portadores de diabetes melito tipo 1 e em seus familiares de primeiro grau / Prevalence of thyroid dysfunction and antithyroid antibodies in type 1 diabetic mellitus patients and their first degree relatives

O diabetes melito tipo 1 (DM1) freqüentemente encontra-se associado à doença auto-imune da tireóide (DAT). A prevalência de DAT varia de 3 por cento a 50 por cento entre diabéticos, e é maior também entre seus familiares, comparada à população geral. OBJETIVOS: Investigar a prevalência da DAT em pacientes com DM1, avaliar possíveis diferenças de comportamento clínico-evolutivo do DM1 entre diabéticos com e sem DAT e estudar a prevalência de DAT nos familiares dos pacientes diabéticos. MATERIAIS E MÉTODOS: Os prontuários de 124 diabéticos tipo 1 foram revisados e coletados os dados referentes à função e aos anticorpos tireoidianos; pacientes com e sem DAT foram comparados em relação à média de Hb glicosilada, complicações agudas e crônicas, idade ao diagnóstico e tempo de evolução do DM, dose de insulina e outros. Um estudo caso-controle foi realizado com 54 familiares em primeiro grau destes pacientes; foram avaliadas a função tireoidiana e a presença de anticorpos antitireoidianos em 32 familiares de diabéticos sem DAT e 22 familiares de diabéticos com DAT. RESULTADOS: As prevalências de DAT e de disfunção hormonal entre os diabéticos foram de 35,5 por cento e 19,3 por cento, respectivamente. Quanto à avaliação dos parâmetros de evolução do DM1, comportamento clínico e controle metabólico não houve diferenças significantes entre os diabéticos com e sem DAT. Houve maior prevalência de DAT nos familiares de diabéticos com DAT do que no grupo dos familiares dos diabéticos sem DAT, sem diferença significativa quanto à prevalência de disfunção hormonal. CONCLUSÕES: A prevalência de doença auto-imune de tireóide em diabéticos e em seus familiares é elevada, justificando-se, nesses casos, a investigação rotineira da função tireoidiana, particularmente dos familiares de primeiro grau de diabéticos com DAT.

Diabetes Mellius Type 1 (DM1) is frequently associated to Autoimmune Thyroid Disease (AITD). The prevalence of AITD among diabetic patients varies between 3 to 50 percent and the incidence is also big among their family members, when compared to the population in general. OBJECTIVES: To investigate the prevalence of AITD in patients with DM1; to evaluate possible differences concerning the clinical-evolutive behavior of DM1 among diabetic patients with or without AITD and to study the prevalence of AITD among the diabetes patients' relatives. MATERIALS AND METHODS: 124 prontuaries of diabetic patients (type 1) were revised and data was gathered concerning the thyroid function and the anti-thyroid antibodies. Patients with and without AITD were compared in relation to the level of glycosylated hemoglobin, the presence of acute and chronic complications, the age of the patient at the time of the diagnosis, time of evolution of the disease, daily dose of insulin and other factors. A control case study was conducted with 54 first degree relatives of the diabetic patients who took part in the study; the thyroid function as well as the presence of anti-thyroid antibodies were evaluated in 32 of those first degree relatives with AITD, and in 22 of those without AITD. RESULTS: The prevalence of AITD and of hormonal dysfunction among diabetic patients was 35.5 percent and 19.3 percent, respectively. No significant differences were found between groups in respect to clinical outcome or to diabetic chronic complications. However, prevalence of AITD and hormonal dysfunction were found to be higher among first degree relatives of diabetic patients with AITD than among relatives of diabetic patients without AITD. CONCLUSIONS: The prevalence of autoimmune thyroid disease in diabetic patients and in their first degree relatives is high. Thyroid function screening is therefore justified in these cases, especially in first degree relatives of diabetics ...

[Assessment of association between autoimmune thyroid disease and chronic urticaria]. / Avaliação da associação entre doença auto-imune de tireóide e urticária crônica idiopática.

Several studies found a higher prevalence of Autoimmune Thyroid Disease (ATD) in patients with Chronic Urticaria (CU). This relationship may be due to the possible autoimmune etiology in up to one third of the cases of Chronic Idiopathic Urticaria (CIU). However, the frequency of ATD ranged from 1.14% to 28.6%. The study began by determining whether there is an association between ATD and CU, in a population seen at the same clinic. We compared the frequency of anti-thyroid antibodies and thyroid dysfunction in 49 patients with CIU (group 1) and 112 controls (group 2). In order to support the result found, we studied the prevalence of CIU in 60 patients with ATD (group 3) and compared with 29 patients who had non-immune thyroid disease (NITD) (group 4). We did not find a statistical difference for the presence of anti-thyroid antibodies or thyroid dysfunction between groups 1 and 2 (12.24% x 9.82% and 12.24% x 7.14%, respectively). The same occurred for the presence of CIU among groups 3 and 4 (3.33% x 3.44%). In our study it was not possible to demonstrate a relationship between ATD and CIU, which means that different populations may present a higher or lower degree of association between these illnesses.

Avaliação da associação entre doença auto-imune de tireóide e urticária crônica idiopática / Assessment of association between autoimmune thyroid disease and chronic urticaria

Vários estudos encontraram maior prevalência de Doença Auto-imune de Tireóide (DAT) em pacientes com Urticária Crônica (UC). Essa relação pode ocorrer devido à possível etiologia auto-imune em até um terço dos casos de Urticária Crônica Idiopática (UCI). No entanto, a freqüência de DAT variou de 1,14 por cento a 28,6 por cento. O princípio deste estudo foi determinar se ocorre associação entre DAT e UCI em uma população atendida em um mesmo centro de saúde. Comparamos a freqüência de anticorpos anti-tireoidianos e disfunção tireoidiana entre 49 pacientes com UCI (grupo 1) e 112 controles (grupo 2). Com a finalidade de fortalecer o resultado encontrado, estudamos a prevalência de UCI em 60 pacientes com DAT (grupo 3) comparados com 29 com doença não auto-imune de tireóide (DNAT) (grupo 4). Não encontramos diferença estatística quanto à presença de anticorpos anti-tireoidianos ou disfunção tireoidiana entre os grupos 1 e 2 (12,24 por cento x 9,82 por cento e 12,24 por cento x 7,14 por cento, respectivamente). O mesmo ocorreu quanto à presença de UCI entre os grupos 3 e 4 (3,33 por cento x 3,44 por cento). Em nosso estudo não foi possível demonstrar uma relação entre DAT e UCI, o que significa que diferentes populações podem apresentar maior ou menor grau de associação entre essas doenças.

Several studies found a higher prevalence of Autoimmune Thyroid Disease (ATD) in patients with Chronic Urticaria (CU). This relationship may be due to the possible autoimmune etiology in up to one third of the cases of Chronic Idiopathic Urticaria (CIU). However, the frequency of ATD ranged from 1.14 percent to 28.6 percent. The study began by determining whether there is an association between ATD and CU, in a population seen at the same clinic. We compared the frequency of anti-thyroid antibodies and thyroid dysfunction in 49 patients with CIU (group 1) and 112 controls (group 2). In order to support the result found, we studied the prevalence of CIU in 60 patients with ATD (group 3) and compared with 29 patients who had non-immune thyroid disease (NITD) (group 4). We did not find a statistical difference for the presence of anti-thyroid antibodies or thyroid dysfunction between groups 1 and 2 (12.24 percent x 9.82 percent and 12.24 percent x 7.14 percent, respectively). The same occurred for the presence of CIU among groups 3 and 4 (3.33 percent x 3.44 percent). In our study it was not possible to demonstrate a relationship between ATD and CIU, which means that different populations may present a higher or lower degree of association between these illnesses.

[Discrepancy between IGF-1 and GH during 75 g oral glucose tolerance test measures to acromegaly screening in a patient with macroprolactinoma--case report and literature review]. / Discordância entre IGF-1 e GH pós-sobrecarga de glicose no rastreamento de acromegalia em paciente com macroprolactinoma--relato de caso e revisão sobre o tema.

We describe a patient with macroprolactinoma and discrepant insulin-like growth factor (IGF-1) concentration (elevated) and growth hormone (GH) values during a 75 g oral glucose tolerance test (normal), that were measured to evaluate the co-secretion of GH by tumor. With the bromocriptin use, the patient achieved normalization of prolactin, but persisted with high levels of IGF1, suggesting to be subclinical acromegaly. After the development of new more sensitive GH assays, cases of discrepant GH and IGF-1 results have been observed and taken to some authors to suggest that GH nadir concentration during 75 g OGTT used to acromegaly diagnosis and treatment could be lower than values considered currently normal. Thus, if this is confirmed, subclinical and oligosymptomatic acromegaly cases could have earlier diagnoses.

Discordância entre IGF-1 e GH pós-sobrecarga de glicose no rastreamento de acromegalia em paciente com macroprolactinoma: relato de caso e revisão sobre o tema / Discrepancy between IGF-1 and GH during 75 g oral glucose tolerance test measures to acromegaly screening in a patient with macroprolactinoma: case report and literature review

Neste artigo, descrevemos o caso de um paciente com diagnóstico de macroprolactinoma, que apresentava valores discordantes entre IGF-1 (elevado) e GH (hormônio de crescimento) pós-teste de tolerância oral à glicose (normal) realizados para pesquisa de co-secreção de GH pelo tumor. Houve normalização dos níveis de prolactina após uso de bromocriptina, porém, durante o acompanhamento, o paciente persistiu com níveis elevados de IGF-1 sem clínica aparente, sugerindo tratar-se de possível forma subclínica de acromegalia. Após o desenvolvimento de novos métodos laboratoriais, mais sensíveis, para a dosagem de GH, casos de discordância entre esses testes vêm sendo observados, levando alguns autores a sugerir que o nadir de GH pós-teste de tolerância à glicose oral (TTGO) para diagnóstico e tratamento da acromegalia pode ser bem menor do que o limite considerado atualmente (1,2). Assim, se isto for confirmado, casos subclínicos ou oligossintomáticos de acromegalia serão diagnosticados mais precocemente.

We describe a patient with macroprolactinoma and discrepant insulin-like growth factor (IGF-1) concentration (elevated) and growth hormone (GH) values during a 75 g oral glucose tolerance test (normal), that were measured to evaluate the co-secretion of GH by tumor. With the bromocriptin use, the patient achieved normalization of prolactin, but persisted with high levels of IGF1, suggesting to be subclinical acromegaly. After the development of new more sensitive GH assays, cases of discrepant GH and IGF-1 results have been observed and taken to some authors to suggest that GH nadir concentration during 75 g OGTT used to acromegaly diagnosis and treatment could be lower than values considered currently normal. Thus, if this is confirmed, subclinical and oligosymptomatic acromegaly cases could have earlier diagnoses.

Primary pigmented nodular adrenocortical disease associated with Carney complex: case report and literature review

CONTEXT: Carney complex (CNC), a familial multiple neoplasm syndrome with dominant autosomal transmission, is characterized by tumors of the heart, skin, endocrine and peripheral nervous system, and also cutaneous lentiginosis. This is a rare syndrome and its main endocrine manifestation, primary pigmented nodular adrenal disease (PPNAD), is an uncommon cause of adrenocorticotropic hormone-independent Cushing's syndrome. CASE REPORT: We report the case of a 20-year-old patient with a history of weight gain, hirsutism, acne, secondary amenorrhea and facial lentiginosis. Following the diagnosing of CNC and PPNAD, the patient underwent laparoscopic bilateral adrenalectomy, and she evolved with decreasing hypercortisolism. Screening was also performed for other tumors related to this syndrome. The diagnostic criteria, screening and follow-up for patients and affected family members are discussed.

CONTEXTO: O complexo de Carney (CNC), uma síndrome de neoplasia múltipla familiar com transmissão autossômica dominante, caracteriza-se por tumores cardíacos, cutâneos, endócrinos e do sistema nervoso periférico, além de lentiginose cutânea. RELATO DE CASO: Devido à raridade da síndrome, bem como de sua principal manifestação endócrina, a doença adrenal nodular pigmentada primária (PPNAD), causa incomum de síndrome de Cushing ACTH-independente, relatamos o caso de uma paciente de 20 anos com história de ganho de peso, hirsutismo, acne, amenorréia secundária e lentiginose em face. Após estabelecido o diagnóstico de CNC e PPNAD, a paciente foi submetida a adrenalectomia bilateral via laparoscópica, evoluindo com melhora do hipercortisolismo. Também foi realizado rastreamento para os demais tumores relacionados à síndrome. Serão discutidos os critérios diagnósticos, o rastreamento e o acompanhamento dos pacientes e familiares afetados.

Primary pigmented nodular adrenocortical disease associated with Carney complex: case report and literature review.

CONTEXT: Carney complex (CNC), a familial multiple neoplasm syndrome with dominant autosomal transmission, is characterized by tumors of the heart, skin, endocrine and peripheral nervous system, and also cutaneous lentiginosis. This is a rare syndrome and its main endocrine manifestation, primary pigmented nodular adrenal disease (PPNAD), is an uncommon cause of adrenocorticotropic hormone-independent Cushing's syndrome. CASE REPORT: We report the case of a 20-year-old patient with a history of weight gain, hirsutism, acne, secondary amenorrhea and facial lentiginosis. Following the diagnosing of CNC and PPNAD, the patient underwent laparoscopic bilateral adrenalectomy, and she evolved with decreasing hypercortisolism. Screening was also performed for other tumors related to this syndrome. The diagnostic criteria, screening and follow-up for patients and affected family members are discussed.