Surgical Care
After the DSD or other high-risk condition is characterized, the treatment of gonadoblastoma is surgical. Thereafter, patients must be observed by an endocrinologist, who supplements any deficiencies in gonadal or adrenal function.
In patients with mixed gonadal dysgenesis, perform bilateral gonadectomy soon after establishing the diagnosis. In a review of 140 patients with dysgenic gonads, Troche and Hernandez (1986) found that the neoplastic transformation of abnormal gonads was common, and bilateral involvement occurred in 38.6% of patients. [17] Patients with mixed gonadal dysgenesis (45,X/46,XY) have an incidence of developing gonadoblastoma of 30-66%. [24] Therefore, most authorities recommended performing bilateral gonadectomy as soon as the diagnosis of gonadal dysgenesis is made. [25]
In patients with complete androgen insensitivity and male pseudohermaphroditism (46,XY) with normal phenotypic genitalia, Rutgers and Scully (1991) recommended that gonadectomy be performed after puberty but before the individual is aged 20 years. [26] This opinion is based on the negligible risk of finding gonadoblastoma in these patients before puberty. However, the overall risk of developing a seminoma/dysgerminoma is 9%; therefore, perform gonadectomy before the individual is aged 20 years.
In patients with partial androgen insensitivity and male pseudohermaphrodism (46,XY), the phenotypes are frequently unpredictable, and gonadectomy is recommended early in conjunction with any other procedure that may be required.
Additionally, 2 other reasons explain why patients with the complete form of androgen insensitivity should have gonadectomy performed after puberty. The reasons are as follows:
-
First, these patients usually receive the diagnosis after puberty when they present with primary amenorrhea.
-
Second, intra-abdominal testicular tissue allows for normal breast development, which allows these phenotypic (46,XY) girls to go through "normal" puberty. This mechanism is initiated when the pituitary release of gonadotropic hormones stimulates the production of testosterone by the testes. Being completely androgen insensitive, the ability to recognize the elevated testosterone concentration does not exist, and the biofeedback mechanism fails to function appropriately, resulting in constant elevated levels of serum LH and testosterone. In the peripheral adipose tissues, testosterone is converted by aromatase to 17-beta-estradiol. The high levels of 17-beta-estradiol allow for normal breast development and the overall feminization of the individual.
Patients with Turner syndrome have been reported to have anywhere from 6-9% incidence of XY mosaicism. Debate remains as to whether screening all patients with Turner syndrome stigmata for the presence of Y chromosome mosaicism is worthwhile. No consensus has been reached regarding the necessity of performing prophylactic gonadectomies on all patients with Turner syndrome. However, in the presence of virilizing symptoms in a patient with Turner syndrome, looking for a Y chromosome is probably indicated. If found, these patients should undergo prophylactic gonadectomy, as the incidence of gonadoblastoma development in these patients has been reported to be as high as 43%.
Individualize the surgical approach to gonadectomy based on the patient's particular anatomy. After clearly defining the DSD, a transscrotal/translabial, inguinal, or transabdominal approach can be used to perform the gonadectomy. If the DSD or the patient's anatomy has not been established clearly, a transabdominal exploration can help to delineate the unpredictable anatomic variability of each individual.
Consultations
Obtain a consultation with a pediatric urologist when any suspicion of an intersex disorder is noted. Often the neonatal anatomy is difficult to diagnose with imaging studies alone, and cystoscopy and vaginoscopy may need to be performed.
A consultation with a clinical geneticist can also be useful in patients who do not have a clearly defined genotype.
Obtain an endocrinology evaluation to manage life-long hormone replacement needs.
Patients with complete androgen insensitivity and male pseudohermaphroditism (46,XY) who receive the diagnosis late (eg, after puberty) should have a consultation with a surgeon for removal of the abnormal gonadal tissue.
Although not directly pertaining to gonadoblastoma, an ethics consultation is often needed to help define the best treatment plan for children with intersex disorders.
Diet and Activity
Diet
After surgery, start a clear liquid diet as soon as the patient regains normal bowel function and appropriately advance the diet.
Activity
Patients are out of bed on postoperative day 1 and resume full normal activity 4 weeks after surgery.
