Детская хирургия. Журнал им. Ю.Ф. Исакова. 2021; 25: 260-266
Агенезия полового члена (афаллия) у мальчиков
https://doi.org/10.18821/1560-9510-2021-25-4-260-266Аннотация
Введение. Агенезия полового члена (афаллия) – это крайне редкий врождённый порок, характеризующийся полным отсутствием полового члена у ребёнка с мужским кариотипом (46XY).
Материал. Проведён анализ литературы по ключевым словам в базах данных Pubmed и Medline.
Результаты. Афаллия, несмотря на редкость, является достаточно подробно и многогранно освещённым в медицинской литературе пороком развития. Частота афаллии оценивается как 1 случай на 10–40 миллионов рождённых мальчиков. Сочетание агенезии полового члена с другими врождёнными аномалиями нередко приводит к гибели таких детей. В настоящее время считается, что данным пациентам должен быть оставлен их генетический мужской пол, поэтому в долгосрочной перспективе возникает сложная проблема выбора оптимального способа и возраста для создания неофаллоса и неоуретры.
Заключение. Редкость встречаемости афаллии обусловливает отсутствие публикаций с освещением отдалённых результатов фаллопластики как у детей, так и взрослых.
Список литературы
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3. Venkatesh S.K., Babu P.R., Joseph T.P., Varma K.K. Male gender assignment of a child with aphallia and associated complex urological anomaly. J Indian Assoc Pediatr Surg. 2017; 22: 38-9. DOI: 10.4103/0971-9261.194619
4. Gabler T., Charlton R., Loveland J., Mapunda E. Aphallia: a review to standardize management. Pediatric Surgery International. Published online: 20 April 2018. https://doi.org/10.1007/s00383-018-4271-z.
5. Palacios-Juárez J., Hanson-Viana E., Rodríguez-Quintero J.H., Morales-Maza Aphallia: do sociocultural issues affect treatment decisions? J. BMJ Case Rep. 2018; 14; 2018: bcr2018226459. doi: 10.1136/bcr-2018-226459.
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12. Sharma D., Singh R., Shastri S. A case report of aphallia with urorectal septum malformation sequence in a newborn: a very rarely seen condition. Int Med Case Rep J. 2015; 4(8): 317-20. doi: 10.2147/IMCRJ.S92122.
13. Bahe P., Sharma D., Bahe A., Pandita A. An Infant With Aphallia and Its Associated Complication: A Rare Case Report and Review of Literature. Trop Doct. 2016; 46(1): 51-3. doi: 10.1177/0049475515576675.
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16. Choudhury S.R., Maji B.P. Penile agenesis: an unusual variant. Intern Urol Nephrol. 1993; 25(1): 71–6.
17. Martinez Tallo ME, Galan Gomez E, Cordero Carrasco JL, Hidalgo Barquero EH, Campo Sampedro PM, Cardesa Carcie JJ. Agenesia de pene y sindrome polimalformative asociado con ingestio´n materna de etretinato. An Esp Pediatr. 1989;31:399–400.
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19. Carter J.P., Isa N.N., Hashem N. Raasch F.O, Jr.: Congenital absence of the penis: a case report. J. Urol. 1968; 99: 766.
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21. Berry S.A., Johnson D.E., Thompson T.R. Agenesis of the penis, scrotal raphe´ and anus in one of monoamniotic twins. Teratology. 1984; 29: 173–6.
22. Kessler W.O. McLaughlin A.P. III: Agenesis of penis: embryology and management. Urology. 1973;1:226.
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25. Gautier T., Salient J., Pena S., Imperto-McGinley J., Peterson R.E. Testicular function in 2 cases of penile agenesis. J Urol. 1981; 126: 556–7.
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28. Shamsa A., Kajbafzadeh A.M., Parizadeh S.M.J., Zare M.A., Abolbashari M. Aphallia associated with urethro-rectal fistula and stones in the bladder and urethra. Saudi J Kidney Dis Transpl. 2008; 19(3): 435-8.
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30. Skoog S.J., Belman A.B. Aphallia: its classification and management. J Urol. 1989; 141(3): 589–92. https://doi.org/10.1016/S0022-3468(89)80153-8
31. Money J., Hampson J.G., and Hampson J.L. Hermaphroditism: Recommendations Concerning Assignment of Sex, Change of Sex and Psychologic Management, Bull. Johns Hopkins Hosp. 1955; 97: 284-300.
32. Hendren W.H. The genetic male with absent penis and urethrorectal communication: experience with 5 patients. J Urol. 1997; 157(4): 1469-74.
33. Peňa A., Devries P.A. Posterior sagittal anorectoplasty: important technical considerations and new applications. J Pediatr Surg. 1982; 17(6): 796-811.
34. Stolar C.J.H., Wiener E.S., Hensle T.W., et. al. Reconstruction of penile agenesis by a posterior sagittal approach. J Pediatr Surg. 1987; 22: 1076-80.
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39. Meyer-Bahlburg H.F. Gender identity outcome in female-raised 46, XY persons with penile agenesis, cloacal exstrophy of the bladder, or penile ablation. Arch Sex Behav. 2005; 34: 423.
40. Reiner W.G., Kropp B.P. A 7-year experience of genetic males with severe phallic inadequacy assigned female. J Urol. 2004; 172: 2395.
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46. Bluebond-Langner R., Redett R. Phalloplasty in Complete Aphallia and Ambiguous Genitalia. Semin Plast Surg. 2011; 25: 196–205. https://dx.doi.org/10.1055/s-0031-1281489.
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50. Bajpai M. Scrotal phalloplasty: A novel surgical technique for aphallia during infancy and childhood by pre-anal anterior coronal approach. J Indian Assoc Pediatr Surg. 2012; 17: 162-4.
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Russian Journal of Pediatric Surgery. 2021; 25: 260-266
Penile agenesis (afallia) in pueros
https://doi.org/10.18821/1560-9510-2021-25-4-260-266Abstract
Introduction. Penile agenesis (aphallia) is an extremely rare congenital defect characterized by the complete absence of the penis in a child with a male karyotype 46XY.
Material. The analysis of the literature on keywords in the Pubmed and Medline databases was carried out.
Results. The incidence of aphallia is estimated 1 out of 10-40 million newborn boys. Aphallia, in spite of its rarity, is a congenital defect which is thoroughly described in the medical literature. The combination of agenesis of the penis with other congenital anomalies often leads to death in such children. Currently, it is believed that these patients should be left with their genetic male sex, therefore, there is a difficult dilemma of choosing the optimal method and age for creating the neophallus and neourethra.
Conclusions. The rarity of the aphallia determines the lack of publications covering the long-term results of phalloplasty in both children and adults.
References
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2. Evans J.A., Erdile L.B., Greenberg C.R., Chudley A.E. Agenesis of the penis: patterns of associated malformations. Am J Med Genet. 1999; 84(1): 47–55. https://doi.org/10.1102/(SICI)1096-8628(19990507)84:13.0.CO;2-X
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15. Friedman A.A., Zelkovic P.F., Reda E.F., Franco I., Palmer L.S. Male and female aphallia associated with severe urinary tract dysplasia. Journal of Pediatric Urology. 2016; 12(268): 1-7. https://dx.doi.org/10.1016/j.jpurol.2016.04.040
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18. Oesch I.L., Pinter A., Ransley P.G. Penile agenesis: a report of six cases. J Pediatr Surg. 1987; 22: 172–4.
19. Carter J.P., Isa N.N., Hashem N. Raasch F.O, Jr.: Congenital absence of the penis: a case report. J. Urol. 1968; 99: 766.
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31. Money J., Hampson J.G., and Hampson J.L. Hermaphroditism: Recommendations Concerning Assignment of Sex, Change of Sex and Psychologic Management, Bull. Johns Hopkins Hosp. 1955; 97: 284-300.
32. Hendren W.H. The genetic male with absent penis and urethrorectal communication: experience with 5 patients. J Urol. 1997; 157(4): 1469-74.
33. Peňa A., Devries P.A. Posterior sagittal anorectoplasty: important technical considerations and new applications. J Pediatr Surg. 1982; 17(6): 796-811.
34. Stolar C.J.H., Wiener E.S., Hensle T.W., et. al. Reconstruction of penile agenesis by a posterior sagittal approach. J Pediatr Surg. 1987; 22: 1076-80.
35. Bruch S.W., Meuli M., Harrison M.R. Immediate Reconstruction for Penile Agenesis. Journal of Pediatric Surgery. 1996; 31(8): 1152-4.
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