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Familial Mediterranean fever (FMF) is an autosomal recessive disease, characterized by recurrent, self-limited attacks of fever with serositis involving the peritoneum, pleura, and joints. There is very scarce information on physical growth of affected children. The aim of this study was to determine whether there is significant improvement in growth parameters in FMF patients after colchicine treatment. Patient files were retrospectively evaluated and patients that used colchicine for more than 1 year were included in the study. Demographic features, clinical findings before and after colchicine therapy, duration and dosage of therapy, weight, height, parentally adjusted height, and body mass index before and after colchicine therapy were noted and transformed into standard deviation scores (SDS). The study group consisted of 50 FMF (25 male and 25 female) patients. Median age at the time of diagnosis was 6.5 years. Median follow-up period was 3.6 (1-12.5) years. Mean height SDS increased from -0.19 +/- 1.01 to 0.13 +/- 0.99 (p = 0.026), and mean parentally adjusted height increased from -0.18 +/- 1.23 to 0.13 +/- 1.24 (p = 0.027), and both of them were found to be statistically significant. Mean body mass index SDS increased from -0.61 +/- 1.32 to -0.32 +/- 1.33, but this improvement was statistically insignificant (p = 0.18). In this study, we found that colchicine significantly improved height development in FMF patients.

Clinical findings illustrate the wide spectrum of the phenotypic manifestations of 45,X/46,XY mosaicism in the sex chromosome disorders of sex differentiation (DSD). The objective of study is to evaluate the characteristics of 45,X/46,XY patients and questioning of their place within the DSD categorization. The clinical findings of 11 patients with 45,X/46,XY mosaicism are described including the presentation, gonadal morphology, genital anatomy, and the hormone levels among 285 patients with DSD evaluated. Sixty-seven patients were diagnosed with sex chromosome DSD (50 Turner, three Klinefelter, ten 45,X/46,XY gonadal disgenesis, one 45X/46,XY ovotesticular DSD, one 47,XYY ovotesticular DSD, and two 46,XX/46,XY ovotesticular DSD). The type and the percentage of patients with 45,X/46,XY mosaicism were as follows: Four cases of mix gonadal dysgenesis, four cases of partial gonadal dysgenesis, two cases of complete gonadal dysgenesis, one case of ovotesticular DSD. On the other hand, another patient that has 45,X/46,XX mosaicism was diagnosed with MGD with the presence of the streak gonad on the right side and the testis on the other side. Conclusion: We suggest that sex chromosome DSD categorization can include 45,X/46,XY PGD and 45,X/46,XY CGD. Mixed gonadal dysgenesis may be also placed among the disorders of testicular differentiation of 46,XY DSD subdivision.

Molecular genetic characterization of mutations in SRD5A2 gene is used as an essential procedure for the final diagnosis of 5alpha-reductase deficiency. Here, we report a novel homozygous point mutation of SRD5A2 gene at codon 65 in exon 1, due to a proline for alanine substitution in a Turkish family whose proband has severe undervirilization. This mutation has not been reported up to date in association with 5alpha-reductase deficiency in various ethnic groups. We discussed some questions about gender assignment in addition to the molecular and clinical characteristics of the disease.