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Summary: In sickle cell disease, erythroid hyperplasia causes trabecular destruction leading to low bone density. This condition could be suspected by the radiomorphometric indices and your diagnosis becomes relevant in a multidisciplinary context of health care for sickle cell subjects, providing prognostics and contributing to determine adequate therapeutic and preventive actions., Introduction: The aim of this study was to assess the risk of low bone density in subjects with sickle cell disease (SCD) through analysis of panoramic radiographic exams by radiomorphometric indices., Methods: Seventy-eight Brazilian subjects with SCD took part in this study and were subdivided into four groups: (I) 31 SCD subjects aged under 40 years; (II) 13 SCD subjects aged 40 years or more; (III) 12 normal subjects aged under 40 years; and (IV) 22 normal subjects aged 40 years or more. In the panoramic radiographs, the mandibular cortical index (MCI) classification, increased spacing of the trabecular bone, panoramic mandibular index (PMI), and mental index (MI) were evaluated. Exact Fisher's test was used to compare age between the different groups. Descriptive analysis of the data was performed to evaluate the simple visual estimation of low bone density (increased bone trabecular space and MCI), and a one-way analysis of variance (Bonferroni criteria) was used to compare the means of the quantitative indices (PMI and MI). The significance level was p < 0.05., Results: In the MCI classification, C2 was more prevalent, especially in groups I and IV. Increased spacing of the trabecular bone was more frequent in groups I and II. MI did not show a statistically significant difference among the groups. PMI showed a statistically significant difference only between groups III and IV., Conclusions: The radiomorphometric indices applied in the present study can be used on panoramic radiographs to detect the presence of low bone density in SCD subjects.

Mutations of the steroid 5alpha-reductase type 2 (SRD5A2) gene in 46,XY subjects cause masculinization defects of varying degrees, due to reduced or impaired enzymatic activity. In this study, sequence abnormalities of the SRD5A2 gene were assessed by polymerase chain reaction with specific primers and automated sequencing analysis in DNA samples from 20 patients with suspected steroid 5alpha-reductase type 2 deficiency from 18 Brazilian families. Eleven subjects presented SRD5A2 homozygous single-base mutations (two first cousins and four unrelated patients with G183S, two with R246W, one with del642T, one with G196S, and one with 217&#95;218insC plus the A49T variant in heterozygosis), whereas four were compound heterozygotes (one with Q126R/IVS3+1G>A, one with Q126R/del418T, and two brothers with Q126R/G158R). Three patients were heterozygous for A207D, G196S, and R266W substitutions. The V89L polymorphism was found in heterozygosis in one of them (with A207D) and in one case with an otherwise normal gene sequence. The A49T variant was also detected in heterozygosis in the second case without other sequencing abnormalities. Four patients harbor yet non-described SRD5A2 gene mutations: a single nucleotide deletion (del642T), a G158R amino acid substitution, a splice junction mutation (IVS3+1G>A), and the insertion of a cytosine (217&#95;218insC) occurring at a CCCC motif. This is the first report of a single-nucleotide insertion in the coding sequence of the SRD5A2 gene. In addition to these new mutations, this investigation reveals the prevalence of G183S substitution among a subset of African-Brazilian patients and presents evidences of the recurrence of already known mutations.