A case of true hermaphroditism presenting at the age ... - Sudanjp.org

I -----------------------------------~A CASE OF TRUE HERMAPHRODITISMPRESENTINGAT THE AGE OF THIRTEENDr. Amani Gindeel, MD. KhartoumIntersex conditions are among the most fascinating conditionsencounteredby the clinician. They are not as rare as once perceived andpose numerous difficulties on the clinicians, families, and patients. This isfurther complicated by social, cultural and religious considerations.In true gonadal intersex, formerly known as truehermaphroditism ,both ovarian and testicular tissues are present, eitherin the same(ovotestis)or in opposite gonads(l). Ovotestis is the mostencountered(2). Affected patients have ambiguous genitals(l).Fewer thanlO% of patients with true intersex have a 46,XYkaryotype (l),the majority being 46,XX(2).A thirteen year old male who resides with his grandmotherawayfrom his cosanguinous parents and four other siblings, presented to thecasualty of Bahri Teaching Hospital on September2004. Accompaniedby his uncle, complaining of recurrent Left tower abdominal pain fortwo days .This pain was constant, not alleviated with analgesics and notassociated with gastrointestinal or renal symptoms, but urination wasperformed only assuming a sitting position. Examination revealed an illlooking, well-grown patient in severe pain, bilateral gynecomastia,o Abdominal examination showed a left irreducible inguinalmass of 4x3 em, left sided undescended testis and ambiguousgenitalia with severe hypospadias (perinea! urethra! opening) and tightchordee. The stretched penile length was between the tenth and fiftienth161

I-centiles . Penile Width was 2.5 em, and the testicular volumeapproximately4 ml.Tanner sexual maturity rating for pubic hair was SMR3 and forthe genitalia was SMR2. Secondary sexual characteristics in form offacial acne, axilliary perspiration,axilliary hair, coupled with a given historyof early morning erection were all suggestive of appropriate malepubertal development.surgical consultation,The patient was admitted for relief of pain , andand was discharged to be seen as an outpatient forfurther evaluation proper expert consultation, and management.Follow up over the following six months revealed similarabdominal pains recurring every 3-5 weeks, each lasting 3-7 days, associatedwith the appearance of an inguinal mass.Investigationsperformed revealed normal complete blood count,Urine general and culture.Abdominal and pelvic ultrasounds reported a 3.5x2.l em ovalshaped structure in the Lt inguinal region, that suggest ano Undescended testicle, below it there was a smaller roundedstructure of low echogenicity.,nature of which uncertain. Normalsized right testicle. Normal urinaryobladder with a small uterus like structure posteriorly, No pelvicmasses or ovanes seen.A micturating cystourethrogramwas then performed. After severaltimes of micturition trials the flow of urine was through an opening belowthe testis.162

Karvotyping was done and showed a normal male pattern of 46XY. Then hormonalassays were undertaken and results showed normallevels of prolactin, follicle stimulating hormone and testosterone, withslightly high lutinizing hormone reaching 15.8 ml U/L(normal up to 9).I11o Management of the patient required a rapid diagnosis and a guardedapproach considering the late age of presentation and the complicatedcircumstances of the absence of parents who live in a distant area, andneeded to be involved .An eminent Paediatric endocrinologistwasconsulted , paediatric surgeon, a urologist and Genetist wereinvolved. A preliminary diagnosis ofIntersex was made, being eithertesticular dysgenisis or true gonadal intersex (true Hermaphrodite)163

-I"" ~ :t ., 1 • " ~~ _":~Sudanese Journal of PAEDIATRICS ~Vol. 7·2005 ~D As well, a fatwa by Ulama Council concerning gender assignmentaccording to the Islamic laws was obtained.D The patient was informed thereafter in the presence of his familyand doctors of the diagnosis and treatment options, and he and hisfamily expressed their wish for his final assignmentas a male. Alaparatomy was performed,where removal of the inguinal mass wasundertaken and the right testis was examined. Release of the chordeeresulted in correction of the penile curvature, and a future plan wasmade for correcting the hypospadias and mastectomy was made .The histopathologyresult of the specimen showed the following:D Macro: The specimen consisted of the left ovary, tube anduterus. The body of the uterus measured 4x4x2 em in its greatestdimensions.The cervix Was small. The tube is normal. The ovarymeasured 5 ern in length.Micro: The endometriumshows glands lined by tall columnar epitheliumwith no secretoryactivity. The glands are lying back to back with littleintervening stroma. The rest of the stroma is compact. The cervix containstwo foci of endometrial glands and stroma. The myometriumnormal.and tube areThe ovary contains corpus luteum and several Graffian follicles.Diagnosis: Functioning right ovary, complex endometrial hyperplasia.D Endometriosis of the cervix and normal myometrium and tube.D In view of the investigations mentioned a diagnosis of TRUEGONADAL INTERSEX was made. A plan for complete surgicalcorrection was set, and the patient and family were actively involvedand satisfied.164

osex reassignmentTheindicatingleaders have issued more than onedefinitely males or females should not be assigned theoppositecurrent Islamic recommendations put forward SeniorUlamagrvesArabia, statement No. 176. dated 17.3.1413Hsuseful general statements which fulfill the scientific facts andindications. recommendations are translated as follows:1)A sex-change operation, i.e.. Converting a completely developed genderto the(sex. is totally prohibited. It is considered criminal. This isclearly supported by the Holy Koran and the Prophet's sayings'.2) Those both male and female organs need to be investigatedevidence is more male, it is then permissible to treat himmedicallyhim as a male;hormones or surgery), to eliminate his ambiguity, and raisethe evidence is more female, it is permissible to treat hermedically (bv hormones or surgery) to eliminate her ambiguity, and raiseher as a female.3) must explain the results of medical investigations to thechild's guardian (be it a male or a female) so they may be well informed.165

REFERENCES:1. Robert Rapaport. Disorders of the gonads. In: Richard E.Behrman,Robert M.Kliegman, Hal B. Jenson. Nelson Textbook of pediatrics,ed Philadelphia, Saunders: 2004:p 1945-46.2. Aleck KA, Argueso L, Stone J, et al: True hermaphroditism withpartial duplication of chromosome 22 and without SRY . Am J MedGenet 85:2, 1999.3. Abdullah MA. Ambiguous genitalia: medical, socio-cultural andreligious factors affecting management in Saudi Arabia. AbdullahMA et al. Annals of tropical paediatrics 1991; 11,343-48.4. Al Herbish et al. Sex reassignment: a challenging problem.Current medical and Islamic Guidelines. Annals of SaudiMedicine1996: 16,!:12-15.166