Maria Leocádia de Oliveira

Prevalência de auto-imunidade tireoidiana em um grupo de pacientes com diabetes mellitus tipo 1 em Londrina, PR

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 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.

A boy with Prader-Willi syndrome: unmasking precocious puberty during growth hormone replacement therapy

Prader-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 of a PWS boy with CPP 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.