ABSTRACT
BACKGROUND: Males with a 47,XXY karyotype have the clinical phenotype of Klinefelter syndrome. A few 47,XXY cases with a female phenotype have been reported. These individuals have positive SRY (testis-determining factor). The genetic explanation of this phenomenon is unclear. CASE: A 34-year-old woman presented with testicular feminization and a 47,XXY karyotype. Cytogenetic analysis and fluorescence in situ hybridization suggested that the Y chromosome had a normal structure; the polymerase chain reaction was positive for SRY. CONCLUSION: This is the third reported case of 47,XXY with afemale phenotype in spite of the presence of a Y chromosome and the normal SRY. This suggests that the phenotypic sex in these patients might be due to the involvement of other sex-determining genes.
Subject(s)
Androgen-Insensitivity Syndrome/diagnosis , Androgen-Insensitivity Syndrome/genetics , Chromosome Aberrations , Chromosomes, Human, Y , Genes, sry/genetics , Adult , Base Sequence , Female , Follow-Up Studies , Humans , In Situ Hybridization , Karyotyping , Male , Molecular Sequence Data , Polymerase Chain ReactionABSTRACT
BACKGROUND: Thyroid nodules in children and adolescents may be associated to malignant neoplasms. Although thyroid cancer is a rare event in this age group, delayed diagnosis is associated to metastatic, regional or lung disease, but even in these circumstances appropriate treatment may be followed by good prognosis. We decided to review the clinical course of these patients in our hospital from 1980 to 2001. METHODS: We found fifteen patients younger than 18 years diagnosed with thyroid carcinoma, which had been followed by at least 12 months, with a mean of 95 months and a maximal of 10 years. All patients were treated by surgery and 131 iodine, and followed by scans, ultrasound and thyroglobulin analysis. RESULTS: The patients group were thirteen females and two males. At diagnosis, seven patients (46.7o%) had metastatic regional disease and eight had a thyroid nodule. Total thyroidectomy with a modified neck dissection and 131 iodine was the initial treatment for patients with regional disease and subtotal thyroidectomy and 131 iodine in the follow-up to treat the thyroid bed or metastases was the treatment for patients with localized disease. All patients had a histologic pattern of papillary carcinoma. Nine patients (60%) had local recurrence in a mean follow-up of 37 months, one patient that had been previously treated by total thyroidectomy and all patients that were treated by subtotal thyroidectomy, however, all responded to the complementary treatment. At this moment the mean follow up is 95 months and all the patients have survived. CONCLUSIONS: In our experience thyroid cancer in children and adolescents is a rare event whose delayed diagnosis is associated to regional lymph node or lung metastases. Subtotal thyroidectomy was associated to disease progression to metastases, but complementary treatment was successful and all patients have survived.
