Uro genital malformation in Cameroon J. Birraux
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1 Uro genital malformation in Cameroon J. Birraux Geneva HealthForum Avril 2016 Geneva
2 Pediatric Urology Uro genital system accounts for 50% of all congenital malformations Congenital Anomalies of the Kidney and Urinary Tract (CAKUT): 1/500 Disorders of sexual development: 1/2000 Distal hypospadias: 1/300 Undescended testis: 1/100
3 Pediatric Urology In a country of ~ 24 millions inhabitants, of whom 50% < 17.7 years old and 43.6 % < 15 years old, it means there are many children suffering from life threatening conditions, but most of all a vast number of young patients living with crippling disabilities affecting their quality of life (urinary incontinence, sterility, impossibility to have sexual intercourse, )
4 Why in Cameroon? 32 years of collaboration between Geneva and Yaounde University Hospitals > 120 Cameroon's MD trained in Geneva No local expertise in management of uro genital malformations No laboratory expertise
5 Objectives Answer requests of our Cameroonian colleagues and train local medical and surgical teams Our requirements: Identical diagnosis and treatment for patients as in western countries Avoid surgery before establishment of diagnosis Good post op care (pain!) Good short and long term follow up
6 Participants Europe Coordinator : Prof. Claude Le Coultre, CHU Geneva Surgery: Prof. Pierre Yves Mure (CHU Lyon), Dr. Jacques Birraux (CHU Geneva) Genetics: Prof. Yves Morel (CHU Lyon), Dr. Véronique Tardy (CHU Lyon), Dr. Sophie Dahoun (CHU Geneva) Endocrinology: Prof. Pierre Chatelain (CHU Lyon) Psychiatry: Prof. François Ansermet (CHU Geneva) Anesthesiology: Dr. Brigitte Paturel (CHU Lyon), Dr. Marie Malice (CHU Geneva), Dr. Isabelle Spahr Schopfer (CHU Geneva) General expertise and synthesis: Prof. Pierre Mouriquand
7 Participants Cameroon Surgery: Prof. Faustin Mouafo (YGOPH), Dr M Bouche Landry (YGOPH) Endocrinology: Dr Suzanne Sap (Foundation Chantal Biya) Nephrology: Dr Georgette Guemkam (Foundation Chantal Biya) Genetics: Prof. Ambroise Wonkam And many young doctors! Political support: Ministry of Health of Cameroon Director of YGOPH Swiss and French embassy
8 Organization Families referred to Cameroon doctors Selection of patients Operations by Cameroon surgeons Joint clinic with French, Swiss and Cameroon teams Operations by complete team Follow up by complete team
9 Medical work up Hypospadias Testis in place DSD No gonad palpated Consultation /Clinic examination DSD 2 gonads palpated DSD Asymetric scrotum Caryotype ADN in biobank Caryotype or QF PCR Caryotype or QF PCR Caryotype or QF PCR Female Male Male Female Echography of pelvis Echography of pelvis Echography of pelvis Echography pelvis 17OHP/ DOC AMH/ Testosterone FSH/ LH/ E2 AMH/ Testosterone FSH/ LH/ E2 AMH/ Testosterone FSH/ LH/ E2 Search for mutations 11 /21 hydroxylase Coelioscopy AR SRY SOX9 SRY SOX9 Gene in particular? Stimulation test HCG Search for mutations 5 Réductase No mutations Arrays CGH Séquençage haut débit If no mutation: Arrays CGH Séquençage haut débit If no mutation Arrays CGH Séquençage haut débit Surgical corrections
10 Population 370 patients included 210 DSD: 46,XY DSD: 154 (133 hypospadias, of which >50% are proximal) 46,XX DSD: 37 ۰19 Congenital Adrenal Hyperplasia (CAH) ۰18 46XX, ovotesticular DSD Sex chromosome DSD: 3 Non hormonal DSD: 16 (15 exstrophy epispadias complex) 19 undescended testis (no longer included) 160 Others Urinary malformations, anorectal, Hirschsprung, miscellaneous.
11 Surgery Mean age at surgery was 7 2/12 years 163 procedures performed: 75 hypospadias repairs (mainly Onlay, Koyanagi and Bracka) 11 feminizing genitoplasties (with 4 ovotesticulars DSD raised as female) 37 cystoscopies 40 others All but 5 children were operated in Yaounde. The remaining 5 patients were operated in Geneva (complex reconstructive surgery or specific equipment needed)
12 Surgery 7 years old 46,XX ovotesticular DSD
13 Follow up 14 children are lost of follow up (4%) 7% complications rate: 4 boys with hypospadias repair dehiscence 6 with fistula after hypospadias repair 1 girl with partial dehiscence of Fortunoff flap Complication rate specifically for hypospadias is 14%, comparable to results in European centres No systemic infectious nor metabolic complications were seen, in particular in children presenting CAH
14 Problems Stabilisation of medical staff Development of surrounding structures (laboratory, disposable, material,...), which could also be useful for other projects Help for faculty work to enhance the Centre s visibility (publications,...)
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