inourp�tientل,moلtlyduetop�rent&#x - PDF document

217 inourp�tientل,moلtlyduetop�rent�lلpeci�cpoللibledi�gnoلeللuch�لguinityinthep�tientل’p�rentل(29.3%Ourd�t�m�ydi�erسromotherلtudieلindi�erentp�rtلoسtheمorldherm�phroditiلm�ndinthedi�eringm�phroditeلintheirلtudyh�dCAH,�ndthemoلtسreقuentc�uلeoسm�legeninلenلitivityor5-�lph�reduct�لe].In�notherdoherm�phroditeل,لexchromoلomeetiologic�ldi�gnoلiل12].InS�udiلtudydoneinthe1990ل(1989ا99),�ere�reلever�lliter�turereportلoسmoل�icTurnerp�tientل�للoci�ted مith�mbiguouلgenit�li�لecond�rytoلign�lم�لdetected;thiلl�لtc�لeم�لconلidered�لuniقuev�riety�nd,toourknoمledge,thiلiلthe�rلtreportoس�mbiguouلgenit�li�inmoل�icTurnerل�ic45,�[11]/46,�,idic(�)(ق11)[9]).Conclusionorderمerethemoلtcommonc�uلeلم�ybioلyntheticdeسectلم�لthemoلtorder.Moل�icTurnerلyndromeم�لnotuncommonc�uلeسor�mbiguouلTapia Ceballos L et al. Seudohermafroditismo masculino [Male Anales de pediatra (Barcelona, Sultan C et al. Ambiguous genitalia in the newborn. Seminars in Zdravkovi D et al. Uzroci dvopolnog izgleda spoljasnjih genitalija kod novoredjencadi [Causes of ambiguous external genitalia in neonates]. Srpski arhiv za celokupno lekarstvo, 2001, Maharaj NR et al. Intersex conditions in children and adolescents: surgical, ethical, and legal considerations. Journal of Coran AG, Polley TZ Jr. Surgical management of ambiguous genitalia in the infant and child. Journal of pediatric surgeryAl-Alwan I et al. Clinical utility of adrenal ultrasonography in the diagnosis of congenital adrenal hyperplasia. Journal of Al-Mutair A et al. Cytogenetics and etiology of ambiguous genitalia in 120 pediatric patients. Annals of Saudi medicineAlvarez-Nava F, Gonzalez-Ferrer S, Soto M. Diagnosis and management of patients with sex differentiation disorders: Referencesexperience at the Unit of Medical Genetics of the University of Zulia, Maracaibo, Venezuela. Investigación clínica, 1998, Ammini AC et al. Etiology, clinical prole, gender identity and long-term follow up of patients with ambiguous genitalia in India. Journal of pediatric endocrinology & metabolism, 2002, Al-Agha AE, Thomsett MJ, Batch JA. The child of uncertain sex: 17 years of experience. Journal of paediatrics and child healthNimkarn S et al. Ambiguous genitalia: an overview of 22 years experience and the diagnostic approach in the Pediatric Department, Siriraj Hospital. Journal of the Medical Association of Forest MG et al. Disorders of sexual differentiation in infants and children. Physiopathological studies. Annales d’endocrinologiePapadimas J et al. Ambiguous genitalia, 45,X/46,XY mosaic karyotype, and Y chromosome microdeletions in a 17-year-old Dundar M et al. A case of ambiguous genitalia presenting with a 45,X/46,Xr(Y)(p11.2;q11.23)/47,X,idic(Y)(p11.2),idic(Y)(p11.2) EMHJ • �ol.No.2 • 2010E�لternMediterr�ne�nHe�lthJourn�lL��evueS�ntءl�Mءdiderr�nءeorient�le 216 لoci�tion�ndPo�erلyndrome).Surpriلingly,p�tientprovedtoh�vepلeudohypo�ldoلteroniلmلupportedbyreسr�ctoryelectrolytediلturb�nceلp�tientلbec�uلeoسPo�erلyndrome�ndhydropلسet�liل.Allc�لeلمeregene,مithnoS�Yلign�ldetected).Allمerer�iلed�لسem�leل.�ep�tientمithtriلomy18died��ermonthلbec�uلeoسcomplexcongenit�lhe�rtincludedp�tientلمhopreلented �nom�lieل(congenit�lcy�notiche�rtorreلpir�tory�nom�lieل)�ndde�thTre�tmentلtr�tegieلمerepl�nned�ccordingtotheلexoسr�iلing�nd�tedclinic�lسe�tureل.�eلeincludedorchidopexyسorundeلcendedteلteل,�ndhormon�lrepl�cementinp�tientلDiscussionApproxim�telyin2000childrenglore�ectionoسthecultur�lb�ckground.h�لbeenm�de,thenextcritic�lلtepiلhyperpl�لi�,لyndromicp�tientل�nderمiلe,c�uلeلoس�mbiguityinp�tientلment�lm�lسorm�tion,congenit�lloc�lelل);hoمever,thereم�لhighdegree Table 1 Clinical data and likely causes of ambiguous genitalia in 46,XX karyotype children ( No.Clinical dataClitoromegaly Extragenital anomalyExtremely ambiguous genitaliaDeathPositive family history21.4Congenital adrenal hyperplasia (21-hydroxylase deciency)35.7Generalized developmental malformationFraser syndromeCongenital local genital defect Table 2 Clinical data and likely causes of ambiguous genitalia in 46,XY karyotype children ( No.Clinical dataMicropenisUndescended testes (both)Extragenital anomalyUndescended testis (single)11.1Death11.1Generalized developmental malformation, with testosterone biosynthetic defectGeneralized developmental malformation, with normal testosterone synthetic pathway11.1Syndromic:Goldenhar syndrome5.6VATER association5.6Potter syndrome5.6Congenital local genital defect, with testosterone biosynthetic defect27.8Congenital local genital defects, with intact testosterone synthetic pathway27.8Androgen insensitivity syndrome5.6 215 Introduction out,but�lلoduetotheimport�nceoسlecul�r�ndr�diogr�phicinveلtig�tionل�reneededtodeterminetheetiology,Inthiللtudy,مe�imedtodeterminethepoللibleetiologieلoس�mbiguouلgenit�li�inneمborninس�ntل��endingintheE�لternProvinceoسS�udiAr�bi�.MethodsdrenHoلpit�l,Hoسuس,overtheperiodJ�nu�ry2003اDecember2006.�eAl-Ahل���re�intheE�لternProvince,مhichiلoneoسthemoلtpopul�tedoس�mbiguouلgenit�li�intheمholeneon�teم�لconلideredtoh�veسem�le.�eclinic�lgenit�lسe�tureلoسconcernمere:clitoromeg�ly,v�gin�lnuل,لigni�c�ntmicropeniل,hypoلp�deلcendedteلtiل/teلteل(iسp�lp�ble).det�iledhiلtoryم�لt�ken�ndpituit�ryhormoneل(thyroidلtimul�tmone(ACTH)�ndgon�dotropinل)�tionincludedلerumbiochemiلtry,otherhormon�lpro�le,chromoلom�lpro�leincludedb�ل�lconcentr�tionلoس1:-hydroxyprogeلterone,cortiلol,dehydroepi�ndroلterone,teلtoلteronechorionicgon�dotropin(hCG)�ndACTH.Chromoلom�l�n�lyلiلم�لingلex-determiningregion(S�Y)�gingincluded�bdomin�lpelvicultr�لonogr�phy�nd,مhenneceلل�ry,genit�li�.�eلeinveلtig�tionلمereSpeci�liلt�nd�eلe�rchCenter,KingAccordingtothek�ryotyping,ourc�لeلمerecl�للi�edintogroupل:46,�Yk�ryotype,46,��k�ryotype,minedk�ryotype.Sex�للignmentم�ل مithouttimetoc�rryoutk�ryotyping�mbiguouلgenit�li�duringtheلtudy�eلeincluded14p�tientلمithhypopl�لticclitoriل�ndv�gin�(Fr�لer(42.9%)(T�ble1).Nogon�dلمerep�lp�ble�nythem.Congenit�lnoلedinp�tientل�ل21-hydroxyl�لede�ciency(35.:%);oسtheلeمerediلe�لe,omph�locele,ren�l�geneلiل,لkelet�l�nom�lieل�nddyلmorphiلm.poلitiveس�milyhiلtoryم�لreportedinp�tientل,oسمhomمereلiلterلمithcongenit�l�dren�lhyperpl�لi�,مhilethethirdh�dلimil�rly��ectedم�لreportedinp�tientbec�uلeoسEighteen(18)p�tientلh�d46,�Yk�ryotype(T�ble2).Micropeniلم�لbothteلteلundeلcended(50.0%)�ndh�dundeلcendedle�teلtiل(11.1%).Hypoلp�di�لم�لسoundinp�tientل(16.:%),مithpeniletype�ndh�dhCGteلtم�لneg�tivein11p�tientل(61.1%).Extr�genit�l�nom�lieلمere(3)لyndromicc�لeلمerereported EMHJ • �ol.No.2 • 2010E�لternMediterr�ne�nHe�lthJourn�lL��evueS�ntءl�Mءdiderr�nءeorient�le 214 Ambiguous genitalia in neonates: a 4-year prospective study in a localized area and H.M. Kamal ABSTRACT This study aimed to determine the possible etiology of ambiguous genitalia in 41 newborn infants at a referral hospital in Hofuf city, Saudi Arabia. In 46,XX karyotype patients ( = 14), congenital adrenal hyperplasia and general malformation disorder were the most common causes of genital ambiguity, while in 46,XY karyotype patients ( = 18), testosterone pathway biosynthetic defect was the most common cause even in conjunction with a generalized malformation disorder. In patients with abnormal karyotype ( = 3), 1 had trisomy 18 (47,XX) and died after 3 months and 2 had different types of mosaic Turner syndrome. The karyotype was undetermined in 6 : une étude prospective de quatre ans dans une zone circonscriteRÉSUMÉ Le but de cette étude était de déterminer l’étiologie possible de l’ambiguïté sexuelle chez 41dans un hôpital de recours de la ville d’Hofuf, en Arabie Saoudite. Chez les nourrissons présentant un caryotype 14), l’ambiguïté sexuelle était le plus souvent due à une hyperplasie congénitale des surrénales et à une malformation générale, alors que chez les bébés ayant un caryotype 46,XY18), la cause la plus fréquente était une anomalie caractérisée par l’absence de biosynthèse de la testostérone, y compris lorsqu’elle était associée à une malformation générale. Parmi les nouveau-nés présentant un caryotype anormal3), l’un, souffrant de trisomie(47,XX), est décédé à l’âge de trois mois, tandis que les deux autres enfants étaient atteints de différents types de syndrome de Turner en mosaïque. Le caryotype était indéterminé chez six nouveau-nés, et Department of Paediatrics, Maternity and Children Hospital, Hofuf, Saudi Arabia. Department of Paediatrics, King Fahd Hofuf Hospital, Hofuf, Saudi Arabia (Correspondence to H.M. Kamal: hosamyousef90@hotmail.com). Received: 16/08/07; accepted: 24/10/07 تهيدx Y ىقyتبx nإ اوt�وُح ًاديtو نال دقق ؛)ًاطيرx ًاطيرx