Matériels et méthodes
G- Nouvelles approches thérapeutiques :
III- Approches chirurgicales :
L’approche thérapeutique chirurgicale de cette maladie, par la surrénalectomie, a été peu étudiée. Une étude a rapporté l’évolution à 5 ans de 18 patients ayant eu une surrénalectomie bilatérale [140]. Cinq patients ont eu une insuffisance surrénalienne aiguë en postopératoire associée à des hypoglycémies sévères chez les 3 plus jeunes. Ces décompensations ont bien répondu au traitement substitutif. Les doses d’hydrocortisone ont pu être baissées jusqu’à 11 mg/m2 /j. Les signes d’hyperandrogénie ont diminué, ainsi que la prise pondérale. Cette étude montre l’efficacité de la chirurgie chez les patients dont l’équilibre hormonal est difficile à obtenir, mais l’indication chez les jeunes enfants à titre préventif reste très discutée.
L’équipe de Conway a publié les résultats de cette chirurgie chez cinq femmes adultes présentant une forme classique et dont l’indication était soit une infertilité liée à un mauvais équilibre, soit une obésité ou une hyperandrogénie non contrôlées [141]. Si les résultats sont bons sur le plan clinique, il ne faut pas oublier qu’elle est encore « expérimentale » dans cette indication, et qu’elle expose au risque de l’anesthésie et de l’acte chirurgical lui-même. Cette solution radicale expose également au risque de décompensation plus fréquente en raison de la suppression de la fonction de la médullosurrénale à savoir la sécrétion d’épi-néphrine, hormone importante dans la réponse au stress [142,143].
L’hyperplasie congénitale des surrénales est une entité pathologique complexe regroupant plusieurs formes cliniques, biologiques et génétiques
Les techniques chirurgicales de féminisation ont considérablement évolué au cours des 30 dernières années, cette évolution a résulté d’une meilleure compréhension l'anatomie neurovasculaire du clitoris et de l’amélioration des techniques chirurgicales, mais nous disposons de peu de renseignements sur les résultats à long terme de cette chirurgie. Le problème majeur que nous rencontrons tous concerne le manque de connaissances sur les paramètres déterminant 'l'identité sexuelle'.
Il apparaît nécessaire de développer des études multicentriques et multidisciplinaires afin d'approfondir nos connaissances dans ce domaine même si ces études sont difficiles à mettre en place principalement pour des raisons psycho-sociales.
Le devenir à long terme de ces patients n’est pas encore optimal quoiqu’il soit amélioré grâce à notre meilleure compréhension de la pathologie et au développement de nouvelles approches thérapeutiques
Dans un tel contexte, la collaboration active entre médecins endocrinologues, pédiatres et adultes est sans doute la clé voute pour améliorer cette prise en charge et prévenir d’eventuelles complications liées à la maladie et/ou à son traitement.
Résumé
Titre : Prise en charge chirurgicale de l’hyperplasie congénitales des surrénales : à propos de 12 cas
Auteur : Manal AZRIOUIL
Mots-clés: hyperplasie congénitale des surrénales, vaginoplastie, clitoridoplastie, évolution.
L’hyperplasie congénitale des surrénales est une maladie héréditaire à transmission autosomique récessive ,elle est due à un déficit enzymatique entravant la stéroïdogénèse , le déficit en 21 hydroxylase est le plus fréquent (90-95%).
C’est une maladie qui touche principalement les filles ,elle est rare chez le garçon(moins de 1% des cas).
L’hyperplasie congénitale de la surrénale se caractérise par un grand polymorphisme clinique.
L'introduction du traitement médical par les corticoïdes a évidemment transformé le devenir des patients.
Le traitement chirurgical de l’hyperplasie congénitale des surrénales s’adresse aux enfants de sexe féminin présentant une virilisation des organes génitaux externes ,et correspond à une génitoplastie féminisante permet de corriger ces anomalies des organes génitaux externes.
Cependant l’évolution n’est pas toujours facile à l’âge adulte ,surtout du point de vue psychologique, sentimental et sexuel.
Si les problèmes pausés par cette affection sont bien cernés dans les pays développés grâce au diagnostic anténatal et au dépistage néonatal, dans notre pays, l’hyperplasie congénitale des surrénales pose encore des problèmes de diagnostic précoce et de prise en charge a long terme.
Abstract
Title : Surgical managment of congenital adrenal hyperplasia : report of 12 cases Author name : Manal AZRIOUIL
Key words : congenital adrenal hyperplasia, vaginoplasty, clitoridoplasty, evolution
Congenital adrenal hyperplasias are hereditary disease with recessive autosomic transmission. They are due to enzymatic deficiency that hinders the steroidogenesis.The 21-hydroxylase deficiency is the most frequent (90-95% of cases). It is a disease that mainly affects girls, it is rare when it affects boys(less than 1% of cases).
The congenital adrenal hyperplasia is characterized by a great clinical polymorphism.
The introduction of medical treatment with corticosteroids has obviously changed the future of patients.The surgical treatment of congenital adrenal hyperplasia is aimed at female children with virilization of the external genitalia, and corresponds to a feminizing genitoplasty that corrects these abnormalities of the external genital organs However, evolution is not always easy in adulthood , especially from a psychological, sentimental and sexual point of view.
If problems with this condition breaks are identified in developed countries through antenatal diagnosis and neonatal screening, in our country the congenital adrenal hyperplasia still presents problems of early diagnosis and treatment long term .
ﺺﺨﻠﻣ
ﻥﺍﻭﻨﻌﻟﺍ : ﻀﺘﻠﻟ ﻲﺤﺍﺭﺠﻟﺍ ﺝﻼﻌﻟﺍ ﻲﻘﻠﺨﻟﺍ ﻡﺨ ﺓﺩﻐﻠﻟ ﺔﻴﺭﻅﻜﻟﺍ : لﻭﺤ 12 ﺔﻟﺎﺤ ﻑﺭﻁ ﻥﻤ : لﻴﻭﺭﺯﺃ لﺎﻨﻤ ﺕﺎﻤﻠﻜﻟﺍ ﺔﻴﺴﺎﺴﻷﺍ : ﻲﻘﻠﺨ ﻡﺨﻀﺘ ﺓﺩﻐﻠﻟ ﺔﻴﺭﻅﻜﻟﺍ ، لﺒﻬﻤﻟﺍ ﺏﺃﺭ ، ﺭﻅﺒﻟﺍ ﺏﺃﺭ ﺭﻴﺼﻤ،
ﺩﻌﻴ
ﻲﻘﻠﺨﻟﺍ ﻡﺨﻀﺘﻟﺍ
ﺓﺩﻐﻠﻟ
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ﻭﺫ ﺎﻴﺜﺍﺭﻭ ﺎﻀﺭﻤ
لﺎﻘﺘﻨﺍ
ﻲﻐﺒﺼ
،ﻲﺤﻨﺘﻤ
ﻊﺠﺭﻴﻭ
ﺭﻭﺼﻘﻟ
ﻕﻭﻌﻴ ﻲﻤﻴﺯﻨﺃ
ﻥﻭﻜﺘ
ﺕﺍﺩﻴﻭﺭﻴﺘﺴﻟﺍ
ﺔﻴﺭﻅﻜﻟﺍ
.
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ﺹﻘﻨﻟﺍ
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) ﺍ
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ﻰﻟﺍ
.(95%
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.(1%
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لﺎﻜﺸﺃ
ﺔﻴﺭﻴﺭﺴ
ﺓﺩﺩﻌﺘﻤ
.
لﺒﻘﺘﺴﻤ ﺭﻴﻏ ﺩﻗ ﺕﺍﺩﻴﻭﺭﻴﺘﺴﻭﻜﻴﺘﺭﻭﻜﻟﺎﺒ ﻲﺒﻁﻟﺍ ﺝﻼﻌﻟﺍ لﺎﺨﺩﺇ ﻥﺃ ﺢﻀﺍﻭﻟﺍ ﻥﻤﻭ
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ﺭﻴﻜﺫﺘ ﻥﻤ ﻥﻴﻨﺎﻌﻴ
ﺀﺎﻀﻋﻸﻟ
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.
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،ﺎﻤﺌﺍﺩ
ﺔﻴﺤﺎﻨﻟﺍ ﻥﻤ ﺔﺼﺎﺨ
ﺔﻴﺴﻨﺠﻟﺍﻭ ﺔﻴﻔﻁﺎﻌﻟﺍﻭ ﺔﻴﺴﻔﻨﻟﺍ
.
ﺍﺫﺇ
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ﺍﺫﻫ
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لﻭﺩﻟﺍ
ﺔﻤﺩﻘﺘﻤﻟﺍ
لﻀﻔﺒ
لﺒﻗ ﺹﻴﺨﺸﺘﻟﺍ
ﺓﺩﻻﻭﻟﺍ
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ﻻ
لﺍﺯﻴ
لﻜﺸﻤ ﺡﺭﻁﻴ
ﺹﻴﺨﺸﺘﻟﺍ
ﺝﻼﻌﻟﺎﺒ لﻔﻜﺘﻟﺍﻭ ﺭﻜﺒﻤﻟﺍ
ﻰﻠﻋ
ﻯﺩﻤﻟﺍ
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