Case Report:
A six month old baby was referred to the endocrine clinic of Imam Reza hospital, Mashhad,Iran, because of clitoromegaly and palpation of a mass in the inguinal area. The mother had noticed this mass recently. Because, female external genitalia was present at birth she was assigned as female. She was the second baby of a consanguine marriage (parents were cousins) and the first child was a normal 6 years old boy.
On physical examination, a mass was palpated in the right inguinal area and a blind vaginal pouch was detected.
Ultrasound of the abdomen and pelvis showed that there was no ovaries and uterus. Testis was detected in the left side and also in the right inguinal canal. Chromosomal analysis revealed 46xy pattern. Serum testostrone :15ng/dl, DHT:21pg/ml, FSH:2.8 miu/ml, LH: 2.4ng/dl.
Homozygote mutation of the SRD5A2 was confirmed and a diagnosis 0f 5 alpha reductase deficiency was made. After psychological counseling and because gender identity was not still established she underwent a surgery and hypospadias was corrected, orchiopexy performed and an acceptable male external genital was made for the patient ( figure1).
On follow up he is a normal boy with normal physical growth and normal male gender identity and behavior.
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The second case is this patient’s aunt who is 35 years old. Third child of a consanguine marriage. She was assigned as female because of the appearance of the external genitals and she went undiagnosed until puberty when she developed clitromegally and increased muscle mass and voice change. Breast development and menarche did not appear. She had been investigated and 5 alpha reductase deficiency confirmed. Patient was counseled but because she was brought up as female, a decision to perform orchidectomy was made and correction surgery of the external genitals was performed. She is now a female with strong physics and acts in contact sports professionally.
The third case of this family is the first patient’s mother cousin. He is now 27 years old. He was also assigned as female but with the onset of puberty and appearance of clitromegaly and voice changes he was investigated and a diagnosis of 5 alpha reductase deficiency was made. Psychological counseling was performed and he was sex changed to male. He is now a normal male with normal male behaviors. He has married and has a normal child.