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DISORDER OF SEX DEVELOPMENT: DESCRIPTION OF 2 CASES OF MALE PSEUDOHERMAPHRODITISM

C. Varetti, A. Burgio, G. Di Maggio, D. Meucci, A. Garzi, M. Messina
  • C. Varetti
    Division of Pediatric Surgery, Department of Pediatrics, Obstetrics and Reproductive Medicine, University Of Siena, Italy
  • A. Burgio
    Division of Pediatric Surgery, Department of Pediatrics, Obstetrics and Reproductive Medicine, University Of Siena, Italy
  • G. Di Maggio
    Division of Pediatric Surgery, Department of Pediatrics, Obstetrics and Reproductive Medicine, University Of Siena, Italy
  • D. Meucci
    Division of Pediatric Surgery, Department of Pediatrics, Obstetrics and Reproductive Medicine, University Of Siena, Italy
  • A. Garzi
    Division of Pediatric Surgery, Department of Pediatrics, Obstetrics and Reproductive Medicine, University Of Siena, Italy
  • M. Messina
    Division of Pediatric Surgery, Department of Pediatrics, Obstetrics and Reproductive Medicine, University Of Siena, Italy | messinam@unisi.it

Abstract

Introduction. "Genetic errors" with malformations and hormonal alterations result in a broad spectrum of disorders of sexual identity difficult to classify for etiopathogenesis and anatomy. Male pseudohermaphroditism (PEM) is the result of defects in masculinisation, persistence of mullerian ducts or genital malformations. In these patients, there is always a 46 XY karyotype, male gonads with the external genitalia and phenotype completely or partially female. The authors describe 2 cases of PEM. Patients and Methods. RS and HNA, 9 and 15 years old. Both had 46 XY karyotype and female phenotype with the presence of penile clitoris and small vagina. The urethral meatus was positioned at the base of the penile clitoris and upper vagina and testicles, were located at the proximal portion of the inguinal canal.Patients were subjected to MRI showing absence of uterus and ovaries. The endoscopy described a small vagina dead-end about 4-5 cm long. Complete resection of the vagina, bilateral orchiopexy, correction of perineal hypospadias with urethral tubulization, reconstruction of the scrotum, with the results of penoscrotal hypospadias were performed. Discussion. Sexual differentiation is the process between VII and XII weeks of gestational age leading to formation of male or female fetus from embryo potentially bisexual. Brain Code gender is bipolar: male or female. In the sexual disorders there is a discrepancy between anatomical sex and the brain code. Genital malformation with a direct mechanism (external genitalia) and indirect (prenatal pathological imprinting on all the receptors of target organs) may exacerbate the brain deterioration of the code resulting in disease patterns difficult to manage according psychological and surgical aspects. Conclusions. Pediatric Surgeon plays a key role in the treatment of genital anomalies. Valutation of pelvic-perineal anatomy is important for the choice of sexual phenotype and related surgical strategy. Early correction of genital abnormality may effectively prevent the child present psychological, behavioral onsequences and problems in family and society.

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Submitted: 2012-01-10 12:06:14
Published: 2012-01-10 13:25:27
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Copyright (c) 2012 C. Varetti, A. Burgio, G. Di Maggio, D. Meucci, A. Garzi, M. Messina

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