Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2004) 7 P270


1James Cook University Hospital, Middlesborough, UK; 2Institute of Human Genetics,Newcastle upon Tyne hospitals, Newcastle, UK.


True hermaphroditism is rare but has been reported in more than 400 individuals.The

diagnosis requires the presence of both ovarian and testicular tissue in either the same or opposite gonads.The external genitalia may simulate those of either a male or a female or may be ambiguous.Diagnosis and treatment at an early age is important .


A 14 years old phenotypic male presented with bilateral significant gynaecomastia which caused serious embarrassment in the school.The patient had pubic hair,right testis measured 8cc,the left 4cc and the penis measured approximately 6 cm.Serum testosterone level was 1.8nanomols/l, FSH 1 unit/l,LH 1.7unit/l,SHBG 27 nanomols/l,17 beta oestradiol 150pmol/l and serum prolactin 159 microUnits/l.Testicular biopsy identified left gonad as ovary consisting of a highly cellular stroma with an identifiable ovum and several Graafian follicles at various stages of development.Right gonad was identified as ovotestis consisting of a ovum in a primary follicle and testicular tubule with thickened basement membranes and showing no evidence of spermatogenic activity.Chromosomal analysis of blood demonstrated an abnormal 46,x,der(x)t(x;y)(p22;p11),ish der(x)(SRY +)karyotype.G banded analysis showed that a portion of a chromosome Y has been transferred onto the short arm of one chromosome X.FISH studies using the SRY probe demonstrated that the derivative X chromosome carries the sex determining region normally seen on the short arm of the Y chromosome.Patient was diagnosed to be an SRY + XX true hermaphrodite.He underwent bilateral orchidectomy with prosthetic replacement to prevent risk of gonadal neoplasm.Gynaecomastia was managed surgically .The cosmetic result was very satisfactory to the patient and he is being treated with intra muscular testosterone injections.

Volume 7

23rd Joint Meeting of the British Endocrine Societies with the European Federation of Endocrine Societies

British Endocrine Societies 

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