Six new cases confirm the clinical molecular profile of complete combined 17 alpha-hydroxylase/17,20-lyase deficiency in Brazil

In 2004, Costa-Santos and cols. reported 24 patients from 19 Brazilian families with 17 alpha-hydroxylase deficiency and showed that p.W406R and p.R362C corresponded to 50% and 32% of CYP17A1 mutant alleles, respectively. The present report describes clinical and molecular data of six patients from three inbred Brazilian families with 17 alpha-hydroxlyse deficiency. All patients had hypogonadism, amenorrhea and hypertension at diagnosis. Two sisters were found to be 46,XY with both gonads palpable in the inguinal region. All patients presented hypergonadotrophic hypogonadism, with high levels of ACTH (> 104 ng/mL), suppressed plasmatic renin activity, low levels of potassium ( 4.4 ng/mL). Three of them, including two sisters, were homozygous for p.W406R mutation and the other three (two sisters and one cousin) were homozygous for p.R362C. The finding of p.W406R and p.R362C in the CYP17A1 gene here reported in additional families, confirms them as the most frequent mutations causing complete combined 17 alpha-hydroxylase/17,20-lyase deficiency in Brazilian patients. Arq Bras Endocrinol Metab. 2010;54(8):711-6548SI71171

Orbital Lymphoma Mimicking Ophthalmopathy in a Patient With Graves'

The objective of this case report is to present a rare association of a mucosa-associated lymphoid tissue lymphoma masquerading as Graves' orbitopathy in a patient with autoimmune hyperthyroidism, without evidence of Graves' ophthalmopathy. A 66-year-old male patient had pain and swelling of the right eye. Evaluation of serum thyroid hormone revealed low thyrotropin, elevated free thyroxin and antithyroperoxidase antibody levels, confirming the diagnosis of Graves' disease. Computed tomographic scan showed intraorbital muscle asymmetry. Biopsy demonstrated a low-grade, B-cell type non-Hodgkin's lymphoma of the mucosa-associated lymphoid tissue. Treatment included radiotherapy and chemotherapy, with regression of the orbital lesion and medical treatment with methimazole and I-131. Detailed orbital evaluation should be considered in all patients who present any atypical signs and symptoms of the eyes, to prevent missing important and progressive diagnoses.344541842