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Introduction: Intersex is a condition of abnormal sexual maturation resulting in abnormal karyotype or primary or secondary sexual characteristics which can be diagnosed by ambiguous genitalia or abnormal characteristics in adolescent. Prevalence of this rare condition is too low (1 in 20,000 live births). It is very confusing for a doctor to determine the treatment chapter which includes proper diagnostic technique, sufficient time for interpretation and intervention and informing the patient. But the steps are too confusing and controversial. Prescribed case made us highly confused by its characteristics which was none of 5-alpha reductage deficiency syndrome, Reifensteine Syndrome, Pseudo-harmaphodism and also having a balance between a male and female which is very rare and unique. As the diagnosis was difficult to define, initiatives were taken to reveal the proper diagnosis for better treatment so that this kind of cases in future could be managed properly.
Case Presentation/Description: 15 years old unmarried girl came to Gynaecology outpatient department complaining of primary amenorrhoea, gradual swelling of the external genitalia since 12 years of age and hoarseness of voice since last month. Physically she was tall, with male pattern pubic hair, tanner stage 0 sized breast, having cliteromegaly rather micropenis, perineal hypospadius, palpable mass in both labia major and a blunt space resembling vagina in between. Laboratory investigations revealed very high Testosterone (246ng/dl) and Thyroid Stimulating Hormone (8.09 mcIU/L) but low level of Follicle Stimulating Hormone (13.83IU/L) and Oestrogen (17pg/dl). Cytogenic study showed 46XY/46XX mosaic chromosomal pattern. In laparoscopy there was no internal female genital organ. Biopsy of the labial mass was done after operation which depicted seminiferous tubules lined by sertoli cells with no sperm production and interstitial fibrosis. Case was very much mysterious as it was in a balance to support both sexes. After informing the family members first, the society had become an obstruction for the doctors to treat with freedom. Then according to the will of the family members and for the sake of the society diagnosis was hidden from patient and managed by Gonadectomy, Clitorectomy, and Vaginoplasty in same sitting with hormonal therapy for life long to make her a “girl” again. After 2 months of the treatment patient came with a good respond towards the hormone therapy. Our case proved that ‘Intersex’ is a mystery of nature and do not always follow the known clinical features.
Discussion: Sometimes we treat the patient for sake of society, family etc. and never think about the patient’s will. This case was not a different in this aspect. Doctors were bound to follow the rules made by society without protest. Patient of INTERSEX is one of them who have nothing to do against the Nature’s betray. More they need physical rehabilitation, ramification, adaptation and a helping hand to come out of gasping agony inside.
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Author(s): KB Ashok
Intersex, Pseudo-harmaphodism, sex disorder