HYPOSPADIAS IN DISORDERS OF GENDER DEVELOPMENT

Sexual development is a process that begins with the fertilization of the ovum, continues during and after pregnancy, and matures with puberty. There are four steps in sex differentiation: 1. determination of chromosomal sex at fertilization, 2. formation of undifferentiated gonads, 3. differentiation of gonads into testicles or ovaries, 4. development of internal and external genital structures. Abnormalities in the genetic structure, gonadal differentiation, and various stages and processes in hormone interaction in internal or external genital structures may also cause abnormalities in sexual development. Disorders of sexual development (DDD) are currently classified as 46XX DGB; 46,XY CGB; Ovo-testicular CGB; 46, XX testicular CGB; 46,XY is classified as complete gonadal dysgenesis. Patients with disorders of sexual development have a complete female external genitalia structure, hypospadias, bifid scrotum and normal localization They may have a male-looking phenotype characterized by gonads. Degree of virilization depends on androgen levels and is determined by the androgen response of the target organ. Although the diagnosis of DSD can often be made in the neonatal period, there may also be diagnoses delayed until adolescence.1,2,3,4 Diagnosis, gender determination, treatment and follow-up of patients require team work. This team should include a pediatric endocrinologist, pediatric surgeon/urologist, child psychiatrist, psychologist, geneticist, social worker and family. This team includes The involvement of other relevant experts may also be required. 2,5,6 In the patient with suspected sexual development disorder, chromosome analysis, laboratory and endocrine examinations as well as genital examination The position, shape and width of the urethral orifice, the presence of atretic urethra and the structural state and degree of division of the spongious bodies, the structure of the prepuce, the penis measurement (dorsal length and diameter when stretched), localization of the penis relative to the scrotum, presence and degree of chordee, condition of the labioscrotal folds, condition and localization of the gonads, and the possibility of hernia involving the gonad or internal genital structure should be investigated.3 These examinations will give us preliminary information about the method to be applied in hypospadias repair.

Children with gender development disorder have varying degrees of developmental anomalies in the external genital structures rather than an isolated hypospadias. Perineal development is also affected in cases of insufficient testosterone production, testosterone receptor defect or inability to convert testosterone into dihydrotestosterone. Perineal developmental abnormalities can also be seen in other DSD cases. Many of these patients have micropenis with severe chordee, the urethral meatus opens to the penoscrotal junction in the bifid scrotum space, and sometimes prepenile scrotum or penoscrotal transposition may develop. For these reasons, instead of planning hypospadias repair alone in patients with DDD and for whom masculinizing genitoplasty is planned, it is necessary to consider it together with other accompanying anomalies and continue the surgical treatment according to a plan.

The main treatment principles for children who are decided to be raised in male orientation can be summarized as follows: to be done
Treatment of micropenis
Correction of cordis
Correction of hypospadias and creation of adequate size urethra
Removal of scrotal anomaly
Gonadal interventions

Removal of Müllerian structure residues
Obtaining a cosmetically acceptable appearance. 7
Among the factors affecting success in hypospadias surgery, the availability and quality of sufficient penile and urethral tissue are as important as the experience of the surgeon and the accuracy of the chosen technique. Since there is developmental deficiency in the penile tissues, unlike isolated hypospadias, in patients with disorders of sexual development, preoperative use of testosterone is recommended and applied for the purposes of development of the prepuce, increase in length and diameter of the penis, increase in glans diameter and neovascularization of the tissues. 8.9

Phallus aplasia can be seen in CGB, although rarely. In this case, phalloplasty can be performed with abdominal skin and myocutaneous flaps, and urethroplasty can be performed with bladder and buccal mucosa, as described by De Castro. Alternative techniques have also been described. However, these patients undergo multiple surgical procedures and ultimately a penile prosthesis may be needed.10
There is no difference in terms of timing for correction of hypospadias in patients with DSD compared to other isolated hypospadias cases. Usually Although treatment is accepted in an age range between 6-18 months, the American Academy of Pediatrics (AAP) recommends the optimal age for elective male genital surgery as 6-12 months. 11,12

The aim of hypospadias treatment in DGB patients is to create a penis of cosmetically acceptable and normal diameter and straightness, a urethra of normal diameter and located at the tip of the glans, as well as to create a functional external genital structure. The main lines of the treatment can be summarized as follows: (1) Orthoplasty (correction of ventral cord), (2) Urethroplasty, (3) Scrotoplasty (reconstruction of bifid labioscrotal folds in scrotum style, correction of penoscrotal transposition, if any)

It is still controversial whether surgical correction in proximal hypospadias cases is performed in a single session or in stages.13,14 The decision during hypospadias surgery is based on the anatomy of the tissues, the quality of the urethral plate, the structure of the spongiosa bodies, and the correction of the ventral cord. It is given on a patient basis in cases such as whether grafting is required, urethral plate cutting, etc. 15 The complication rate is reported to be higher in single-stage planned corrections. 16 In a literature review conducted in 2010, the complication rate in single-stage repairs was found to be 38% with tubularized prepuce flap urethroplasty and 32% with Koyanagi repair. 17 After Braka's definition of the two-stage repair technique in 1995, 18 staged surgery is generally preferred today and complication rates are lower. 19-24 In the first stage, the main aim is to correct the chordee and to close the ventral skin defect by shifting the dorsal prepuce to the ventral face or with buccal mucosa-like grafts and to provide sufficient bed tissue for the neourethra to be created in the second stage. In DGB patients, chordee differs from isolated hypospadias cases because the micropenis and urethral meatus are localized proximally. To correct chordee, all fibrotic tissues, especially on the ventral face, must be excised after the penile shaft is degloved. In cases where dorsal tunica albuginea plication is not sufficient, urethral plate mobilization, urethral plate division, and ventral corporotomies can be performed. In cases of severe chordee, support is provided to the insufficient ventral tissue with prepuce, buccal mucosa or skin grafts and plate preparation is made for the second stage. If the urethral plate is preserved, depending on the quality of the urethral plate Methods such as plate incision and tubularization (TIP) and onlay island flap can be applied. Local tubularized flaps, inlay or onlay mucosal grafts from prepuce or scrotal skin can be used. One-stage methods such as Koyanagi repair can be tried. Scrotoplasty can also be applied at the same stage 25

If two-stage planning has been made, the second stage is usually started 6 months after chordee correction and ventral bed creation. If the glans is not large enough and the penis is small before the second stage, these structures must first be brought to sufficient maturity. Therefore, testosterone treatment can be repeated. Two-stage techniques such as Thiersch Duplay, Belt-Fukua and TIPU can be tried. Second layer as support tissue on urethroplasty Vascularized dartos flap, tunica vaginalis flap or local dartos tissues can be used. Two-stage correction results are also reported at different rates. In comparative studies conducted by the same team, the complication rate after two-stage surgery was lower and the results seems more satisfactory. 22, 23,24

Another point that distinguishes CGB from other isolated hypospadias cases is that full or partial penoscrotal transposition can be found together with proximal hypospadias in these patients. In this case, first the transposition is corrected and then hypospadias repair is performed, Those who recommend correction of penoscrotal transposition at the same stage as hypospadias repair There are also those who leave the penoscrotal transposition correction process to the last stage. 2, 26 Correction of penoscrotal transposition in the second stage is preferred as it has a lower complication rate and more cosmetic results. 2, 26-28

As a result, masculinizing genitoplasty and hypospadias repair in patients with DDD are complex reconstructive procedures that must be performed in certain centers and by experts in this field. Despite the advances in surgical techniques in recent years, the results are not clear in terms of the functional, cosmetic and psychological status of these patients at older ages. These patients require long-term follow-up and support by the CGB team. style="font-size:14px;">Lee PA, Houk CP, Ahmet SF, Hughes IA: International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology, Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics 2006;118(2):488-500

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