Volume : VI, Issue : III, March - 2017
Ambiguous Genitalia in an adult female due to classic virilising Adrenal Hyperplasia – A Rare case report
Dr. Neelam Jain, Dr. Rohan Jain
Abstract :
Congenital Adrenal Hyperplasia is a rare autosomal recessive disorder in which there is virilisation of the female foetus due to production of androgenic hormones, cause being an enzymatic defect in steroidogenesis. According to National Organization of Rare Disorders (NORD), USA, CAH is a rare disease and in Asian region the incidence is about 1:45000 live births. Usually this condition is diagnosed in new born or in children. I am presenting this case because the disease remained undiagnosed in the patient till the age of twenty six years. . Patient came in the outpatient department with the complaints of primary amenorrhea and abnormal genitalia. On examination the patient had a pseudo phallus with the masculine appearance of the glans and the persistence of the fusion of the labia majora to resemble a scrotum. Phenotype was male. Vaginal length was normal. USG showed that uterus and adnexa were normal. 17 OH Progesterone was high and Karyotype was 46 XX. Diagnosis of CAH was made. Clitoroplasty was done and postoperatively oral steroids were started. Patient has started menstruating regularly. This case is presented here because it is rarely seen in adults. It enhances knowledge for the treatment options for such patients so that they can lead a happy sexual life and if possible any fertility options that can be offered to them .
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DOI : 10.36106/ijsr
Cite This Article:
Dr.Neelam Jain, Dr. Rohan Jain, Ambiguous Genitalia in an adult female due to classic virilising Adrenal Hyperplasia – A Rare case report, INTERNATIONAL JOURNAL OF SCIENTIFIC RESEARCH : VOLUME-6 | ISSUE-3 | MARCH‾2017
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References :
Dr.Neelam Jain, Dr. Rohan Jain, Ambiguous Genitalia in an adult female due to classic virilising Adrenal Hyperplasia – A Rare case report, INTERNATIONAL JOURNAL OF SCIENTIFIC RESEARCH : VOLUME-6 | ISSUE-3 | MARCH‾2017
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