New mutations, hotspots, and founder effects in Brazilian patients with steroid 5 alpha-reductase deficiency type 2

Mutations of the steroid 5 alpha-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 5 alpha-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_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_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.83756957

Diagnosis of 5 alpha-reductase type 2 deficiency: Contribution of anti-Mullerian hormone evaluation

Aim: To evaluate anti-Mullerian hormone (AMH) levels in patients with clinical and molecular diagnosis of 5 alpha-reductase 2 deficiency. Patients and Methods: Data from 14 patients whose age ranged from 21 days to 29 years were analyzed according to age and pubertal stage. Sexual ambiguity was rated as Prader III in 11 patients. LH, FSH, testosterone (T), dihydrotestosterone (DHT) and AMH serum levels were measured in all but two patients, who had been previously submitted to gonadectomy; T and DHT were also measured in 20 age-matched controls. Results: Gonadotropin levels were normal in all but one patient who retained gonads (six of whom had reached puberty) and T/DHT ratio was elevated in all patients when compared to controls. All prepubertal patients had AMH levels < -1 SD for age, while most pubertal patients had AMH levels compatible with pubertal stage. Conclusions: Prepubertal patients with 5 alpha-reductase 2 deficiency have AMH values in the lower part of the normal range. These data indicate that T does not need to be converted to DHT to inhibit AMH secretion by Sertoli cells.o TEXTO COMPLETO DESTE ARTIGO, ESTARÁ DISPONÍVEL À PARTIR DE AGOSTO DE 2015.18121383138

Actividad antioxidante, compuestos fenólicos y ácido ascórbico de frutillas en dos sistemas de producción Antioxidant activity, phenolic compounds and ascorbic acid content in strawberries from two crop production systems

El objetivo de este trabajo fue determinar la influencia del sistema de producción y del período de almacenamiento de frutillas sobre la pérdida de masa, compuestos fenólicos totales, antocianinas totales, ácido ascórbico (vitamina C), actividad antioxidante y sus correlaciones. En este experimento fueron utilizadas frutillas 'Camarosa' y 'Camino Real' con madurez comercial, procedentes de cultivos en sistemas de producción orgánico y convencional, localizados en el municipio de Pelotas-RS. Los frutos fueron almacenados durante 0, 2, 5 y 8 días a 1ºC y 90-95% de HR. En general, el contenido de fenoles totales, de antocianinas totales y la actividad antioxidante aumentaron durante el almacenamiento refrigerado, mientras que los contenidos de ácido ascórbico y de masa fresca disminuyeron significativamente. Los contenidos de fenoles totales y de antocianinas totales presentaron correlación positiva con la actividad antioxidante, siendo la correlación con el contenido de ácido ascórbico negativa. Las frutillas producidas en sistema orgánico y conservadas durante cinco días, mostraron mayores valores de actividad antioxidante. Después de ocho días de almacenamiento a 1ºC, los frutos del sistema de producción orgánico presentaron menor degradación de antocianinas y de ácido ascórbico que los frutos del sistema de producción convencional.<br>The aim of this study was to determine the influence of the crop production system and storage period on weight loss, total phenolic content, total anthocyanin content, ascorbic acid (vitamin C) content, and antioxidant activity in strawberries, as well as their correlations. For this experiment, strawberry fruits of 'Camarosa' and 'Camino Real' at commercial maturity from both organic and conventional crop production systems located in Pelotas, Brazil, were used. The fruits were cold stored for 0, 2, 5, and 8 days at 1ºC and 90-95% RH. In general the total phenolic, total anthocyanin levels and antioxidant activity increased during cold storage. Ascorbic acid levels and fresh weight decreased significantly. Total phenol and anthocyanin levels showed positive correlations with total antioxidant activity, while the ascorbic acid content showed a negative correlation. Strawberries produced by the organic system and cold stored for five days showed higher values of antioxidant activity. After storage at 1ºC for eight days, strawberry fruits from the organic production system presented lesser anthocyanin and ascorbic acid degradation than the fruits from the conventional production system