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    A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family
    (Elsevier Science Inc, 2005) Bahceci, M; Ersay, AR; Tuzcu, A; Hiort, O; Richter-Unruh, A; Gokalp, D
    Objectives. To analyze the steroid 5-alpha reductase type 2 gene (SRD5A2) in 2 siblings with severe male pseudohermaphroditism suspected to have 5-alpha reductase deficiency in a Turkish family. Methods. Two female siblings of a family with 7 children were referred to the urology department because of bilateral inguinal masses. The patients had presented after birth with ambiguous genitalia, but no further diagnostic procedures had been performed, and they were raised as girls until the ages of 13 and 15 years. At this time, both had striking ambiguity of the genitalia, with a clitoris-like phallus, severely bifid scrotum, pseudovaginal perineoscrotal hypospadias, a rudimentary prostate, and inguinal testes. Karyotype was 46,XY. Basal and stimulated levels of serum testosterone (T), dihydrotestosterone (DHT), and T/DHT ratio indicated 5-alpha reductase deficiency. Molecular genetic analysis was performed on deoxyribonucleic acid from peripheral blood leukocytes by single-stranded conformational polymorphism analysis and direct sequencing. Results. Analysis of the SRD5A2 gene revealed a new homozygous missense mutation in exon 2. At codon 123, we identified a GGA to AGA change resulting in a missense amino acid change from glycine to arginine (G123R). Both parents and the 2 healthy sisters and 3 brothers were all heterozygous at codon 123 for the same mutation. Conclusions. We report a novel homozygous missense mutation in exon 2 of the 5-alpha reductase type 2 gene that led to severe undervirilization in 2 siblings.
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    Whole-body microwave exposure emitted by cellular phones and testicular function of rats
    (Springer, 1999) Dasdag, S; Ketani, MA; Akdag, Z; Ersay, AR; Sari, I; Demirtas, ÖC; Celik, MS
    This study investigated whether there are adverse effects due to microwave exposure emitted by cellular phones in male rats. Eighteen Wistar Albino rats were separated into three groups, a sham group and two experimental groups. The rats were confined in Plexiglas cages and cellular phones were placed 0.5 cm under the cages. In the first experimental group, cellular phones were in standby position for 2 h. In the second experimental group. phones were turned to the speech position three times each for 1 min duration over 2 h. Rats in the first and second experimental groups were exposed to microwaves emitted by phones for 2 h/day for a duration of 1 month. After the last exposure the rats were killed. Brain, eyes, ears, liver, heart, lungs, stomach, kidneys, testes. small and large intestines and skill of the rats were observed histologically. The decrease of epididymal sperm counts in the speech groups were not found to be significant (P > 0.05). Differences in terms of normal and abnormal sperm forms were not observed (P > 0.05). Histological changes ut ru especially observed in the testes of rats of the speech groups. Seminiferous tubular diameter of rat testes in the standby and speech groups was found to be lower than the sham group (P < 0.05). Rectal temperatures of rats in the speech group were found to be higher than the sham and standby groups (P < 0.05). The rectal temperatures of rats before and after exposure were also found to be significantly higher in the speech group (P < 0.05). Specific absorption rate (SAR) was determined as 0.141 W/kg.