P450c17 deficiency is an autosomal recessive disorder and a rare cause of congenital adrenal hyperplasia characterized by hypertension, hypokalemia, and impaired production of sex hormones. We performed a clinical, hormonal, and molecular study of 11 patients from 6 Brazilian families with the combined 17alpha-hydroxylase/17,20-lyase deficiency phenotype. All patients had elevated basal serum levels of progesterone (1.8-38 ng/ml; 0.57-12 pmol/liter) and suppressed plasma renin activity. CYP17 genotyping identified 5 missense mutations. The compound heterozygous mutation R362C/W406R was found in 1 family, whereas the homozygous mutations R96W, Y329D, and P428L were seen in the other 5 families. The R96W mutation has been described as the cause of p450c17 deficiency in Caucasian patients. The other mutations were not found in 50 normal subjects screened by allele-specific oligonucleotide hybridization (Y329D, R362C, and W406R) or digestion with HphI (P428L) and were recently found in other Brazilian patients. Therefore, we elucidated the genotype of 11 individuals with p450c17 deficiency and concluded that basal progesterone measurement is a useful marker of p450c17 deficiency and that its use should reduce the misdiagnosis of this deficiency in patients presenting with male pseudohermaphroditism, primary or secondary amenorrhea, and mineralocorticoid excess syndrome.

Using an instrument of evaluation of theoretical knowledge, the authors have assessed the capacity of understanding and memorizing often groups of diabetes' carriers, that were being followed by a multiprofessional team from the ambulatory of the HURNP. The evaluation included the discussion of a variety of subjects which were part of the activities of an Educational Program. Only one group of patients showed a satisfactory performance. Individual analysis showed that young diabetes' carriers, that were motivated and had good level of understanding, had a better performance. It was concluded that the evaluation allows the selection of patients that need specific reinforcement and that a plan of activities can be elaborated according to the tested subjects.

SUMMARYPrader-Willi syndrome (PWS) is a genetic disorder frequently characterized by obesity, growth hormone deficiency, genital abnormalities, and hypogonadotropic hypogonadism. Incomplete or delayed pubertal development as well as premature adrenarche are usually found in PWS, whereas central precocious puberty (CPP) is very rare. This study aimed to report the clinical and biochemical follow-up o f a PWS boy w i t h C P P and to discuss the management of pubertal growth. By the age of 6, he had obesity, short stature, and many clinical criteria of PWS diagnosis, which was confirmed by DNA methylation test. Therapy with recombinant human growth hormone (rhGH) replacement (0.15 IU/kg/day) was started. Later, he presented psychomotor agitation, aggressive behavior, and increased testicular volume. Laboratory analyses were consistent with the diagnosis of CPP (gonadorelin-stimulated LH peak 15.8 IU/L, testosterone 54.7 ng/dL). The patient was then treated with gonadotropin-releasing hormone analog (GnRHa). Hypothalamic dysfunctions have been implicated in hormonal disturbances related to pubertal development, but no morphologic abnormalities were detected in the present case. Additional methylation analysis (MS-MLPA) of the chromosome 15q11 locus confirmed PWS diagnosis. We presented the fifth case of CPP in a genetically-confirmed PWS male. Combined therapy with GnRHa and rhGH may be beneficial in this rare condition of precocious pubertal development in PWS. Arch Endocrinol Metab. 2016;60(6):596-600

Arq Bras Endocrinol Metab vol 49 nº 2 Abril 2005 228 RESUMOA auto-imunidade tireoidiana é uma co-morbidade freqüente entre pacientes com diabetes mellitus tipo 1 (DM1). Neste estudo, avaliamos a prevalência da positividade para auto-anticorpos anti-tireoidianos (anti-microssomal, anti-Tg e anti-TPO), bem como características clínicas (idade, sexo, duração do DM) e laboratoriais (função tireoidiana, HbA1) de 101 pacientes (idade média de 20 ± 9,6 anos; 62 do sexo feminino) com DM atendidos no HC/UEL. Resultados: A presença de auto-anticorpos foi detectada em 31 pacientes (30,7%). No grupo com idade <12 anos, a prevalência de anticorpos foi de 15%; entre 12-18 anos, 32%, e >18 anos, 35,7% (p= 0,22). Entre os 31 pacientes com anticorpos positivos, 40% apresentava alguma disfunção tireoidiana, comparados a apenas 4,4% daqueles sem anticorpos (p<0,001). O TSH médio foi maior no grupo com anticorpos presentes (3,75 vs. 2,32µU/mL; p= 0,01). Conclusão: A prevalência da positividade para anticorpos marcadores de tireoidite auto-imune foi de em 30,7%, compatível com a literatura. Thyroid autoimmunity is a frequent comorbid condition subjects with in type 1 diabetes mellitus (DM1). We evaluated the prevalence of antithyroid autoantibodies (antimicrosomal, antithyroglobulin and antithyroid peroxidase), in addition to clinical (gender, age, DM duration) and laboratory (TSH, HbA1) characteristics of 101 patients (mean age 20 ± 9.6 years; 62 female) followed at the HC/UEL. Results: Autoantibodies were found in 31 subjects (30.7%). In the age group <12 years, 15% had thyroid antibodies; from 12 to 18 years, 32%, and >18 years, 35.7% (p= 0.22). Among the patients with positive antibodies, 40% had some thyroid dysfunction vs only 4.4% of those without antibodies (p<0.001). The average TSH was higher in the positive than in negative group (3.75 and 2.32µU/mL, respectively; p= 0.01). Conclusions: The prevalence of thyroid antibodies was 30.7%, in accordance to the literature. Keywords: Type 1 diabetes mellitus; Autoimmune thyroiditis; Autoantibodies; Prevalence P ACIENTES COM DIABETES MELLITUS do tipo 1 (DM1) podem apresentar auto-anticorpos contra diversos antígenos da célula beta pancreática, bem como para antígenos da tireóide, adrenais e células parietais do estô-mago, dentre outros.

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Long-acting somatostatin analogs are often used for treating acromegaly, either as adjuvant to surgery or radiotherapy or, more recently, as a primary therapeutic option. These drugs seem to be reasonably safe, but new adverse effects not yet described may occur during the use of the relatively new longacting formulations. In this case report, we describe a severe cutaneous reaction (erythema multiforme) in a patient treated with long-acting release (LAR) octreotide, and also discuss the need of previous "testing" with short subcutaneous preparation of octreotide. RESUMOEritema Multiforme Associado ao Octreotide-LAR em uma Paciente Acromegálica: Relato de Caso. Análogos da somatostatina de longa duração são freqüentemente usados no tratamento da acromegalia, como adjuvante à cirurgia ou à radioterapia ou, mais recentemente, como opção terapêutica primária. Essas drogas parecem ser razoavelmente seguras, mas podem ocorrer feitos colaterais ainda não descritos com o uso das relativamente novas formulações de ação prolongada. Neste relato de caso, descrevemos uma reação cutânea grave (eritema multiforme) em uma paciente tratada com octreotide de liberação prolongada (LAR) e discutimos a necessidade de submeter os pacientes previamente a um "teste" com a formulação subcutânea do octreotide de ação rápida. Descritores: Octreotide/efeitos adversos; Eritema multiforme; Acromegalia; Somatostatina/análogos e derivados.

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