Method Patients were examined, diagnosed and treated DSD or ambiguous sex at (NHP) from 31/07/2002 to 31/7/2012. Criteria that suggest DSD include 1. overt genital ambiguity (eg, cloacal exstrophy) 2. apparent female genitalia with an enlarged clitoris, posterior labial fusion, or an inguinal/labial mass 3. apparent male genitalia with bilateral undescended testes, micropenis, isolated perineal...

We report on mutation screening and CAG repeat length analysis of the androgen receptor (AR) gene in 21 patients with hypospadias. The urethral meatus was located at the glandular region in six patients (glandular type), at the penile shaft in seven patients (penile type), and at the scrotal/perineal region in eight patients (scrotal/perineal type). Mutation screening was performed for exons 1-...

OBJECTIVE Mutations in chromosome X open reading frame 6 (CXorf6), a recently described candidate gene involved in the development of male genitalia, have been found in patients with complex 46,XY disorders of sexual development (46,XY DSD) including micropenis, bifid scrotum, and penoscrotal hypospadias. The objective of this work was to identify genomic variants of CXorf6 in patients with iso...

PURPOSE ATF3, an estrogen responsive gene expressed during genital development, could be implicated in the etiology of hypospadias. ATF3 is up-regulated in the foreskin of patients with hypospadias and is implicated in suppression of the cell cycle, which may interfere with urethral cell growth. We sought to investigate the sequence of ATF3 in patients with hypospadias. MATERIAL AND METHODS D...

INTRODUCTION Acquired megalourethra (AMU) after repair of proximal hypospadias can be a serious complication. An observational retrospective study of its incidence among different types of repair was performed. MATERIALS AND METHODS Clinical charts of patients operated on for proximal hypospadias were reviewed. INCLUSION CRITERIA all primary hypospadias operated in 1991-2004, with the meatu...

PURPOSE We report the efficacy of an expanded algorithm for penile straightening in proximal hypospadias surgery to preserve the urethral plate for urethroplasty. We also compared ventral corporotomy with grafting to multiple superficial ventral corporotomies without grafting for straightening greater than 30-degree ventral curvature. MATERIALS AND METHODS The need for urethral plate transect...

Recently, it has been reported that boys with severe hypospadias are at increased risk for acquired cryptorchidism. The reports suggested that prenatal and postnatal androgen disruption might be correlated with this condition. We experienced a case of ovotesticular disorder of sex development (DSD), which was ultimately diagnosed at surgery for acquired cryptorchidism. Ascent of the scrotal con...

An infant with a 46XY karyotype was born with ambiguous genitalia, including microphallus and perineal hypospadias. A female gender was assigned due to extreme failure of development of the external genitalia. Subsequent investigations demonstrated panhypopituitarism, and it is believed that severe gonadotrophin deficiency was responsible for the intersex state. This case illustrates the need t...