1. Genetic male 46XY with defect androgen synthesis and/or action
2. Biosynthetic defects
3. Androgen resistance (mutation in androgen receptor and/or transport)
4. Gonadal differentiation defects (i.e., streak gonads or dysplastic testes, mixed development chromosomal defects with gonadal asymmetry):
(a) Mixed chromosome DSD with mixed gonadal dysgenesis (45XY/45XO)
(b) Ovotesticular DSD 46XY, 46XX
Indications
Laparoscopy has a role in DSD in several areas. In the initial assessment period, it may significantly aid diagnosis by determining the internal genital structures and gonadal type. This may ultimately influence the decision of gender assignment and the prognosis given to the parents regarding fertility. Laparoscopy is also used for surgical resection of internal structures, including Mullerian remnants, utriculi, and incompletely virilized structures. It is also useful for assessment and management of the gonad, in particular the removal of streak gonads or dysgenetic intra-abdominal ovotestes [3, 4].
Many straightforward DSD do not require laparoscopy. These include complete androgen insensitivity, congenital adrenal hyperplasia, and some partial androgen insensitivities. These conditions are easily evaluated by thorough endocrine and radiological workup and rarely require surgical intervention.
The indications can be summarized as follows [5]:
1.
Laparoscopy may often have a role in ovotesticular DSD, where the external genitalia are asymmetrical. Of these patients, 20 % have specific lateral disease with a testis generally present on the right-hand side and the ovary on the left. In up to 30 % of cases, the disease has bilateral ovotestes. The remaining 50 % of patients have unilateral disease with a solitary ovotestis and a normal ovary or a testis on the contralateral side. Ovotesticular DSD often requires accurate gonadal assessment and biopsy.
2.
Laparoscopy also aids in removing highly potentially malignant gonads. In mixed chromosomal DSD with mixed gonadal dysgenesis, 25 % of testes with a Y cell line will have evidence of carcinoma in situ. Half of the carcinoma in situ gonads will go on to develop a complete germ cell tumor. Laparoscopy is often worthwhile in the removal of these gonads.
3.
Multiple conditions can result in persistence of Mullerian duct remnants, and enlarged utriculi are often found behind the bladder associated with severe hypospadias. Small utricular remnants are often asymptomatic and do not require any surgical treatment. Some of these young males ultimately develop recurrent utriculus infections that are worse following hypospadias repair. In these patients, laparoscopic resection of the utriculus is indicated.
4.
Finally, children with complex morphological development anomalies exhibit abnormal perinea, bifid or rudimentary uteri, and dysplastic gonads. Ultrasound and MRI imaging is often unreliable in this group. Evaluation of the pelvic structures is often best achieved with laparoscopy. Preoperative patient preparation with infants with DSD requires a multidisciplinary team that includes geneticists, endocrinologists, counselors, pediatric urologists, and pediatric surgeons. A baby born with an indetermined sex is best transferred urgently to a center with appropriate expertise, so that life-threatening conditions can be excluded and laparoscopy only performed if deemed appropriate.
Preoperative Investigations
Standard preoperative investigations of a child with an indeterminate DSD include a thorough clinical assessment, ultrasonography of the perineum and pelvis, and contrast study of urogenital sinuses. Karyotyping and a comprehensive endocrine evaluation are done, including adrenal sex steroid concentrations and a hormone-binding globulin test for androgen sensitivity. Molecular genetic analysis is used to look at the androgen receptor gene and the 5-alpha reductase gene. Many of these investigations can be completed in a 48-h neonatal period, and laparoscopy is rarely required. There are several infants where the diagnosis and internal assessment still remains in doubt and the picture is mixed. In this case, laparoscopic evaluation of the pelvic contents and gonadal biopsy is indicated in the neonatal period.
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