408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing

Abstract

Objective. To evaluate diagnosis, age of referral, karyotype, and sex of rearing of cases with disorders of sex development (DSD) with ambiguous genitalia. Methods. Retrospective study during 23 years at outpatient clinic of a referral center. Results. There were 408 cases; 250 (61.3%) were 46,XY and 124 (30.4%) 46,XX and 34 (8.3%) had sex chromosomes abnormalities. 189 (46.3%) had 46,XY testicular DSD, 105 (25.7%) 46,XX ovarian DSD, 95 (23.3%) disorders of gonadal development (DGD), and 19 (4.7%) complex malformations. The main etiology of 46,XX ovarian DSD was salt-wasting 21-hydroxylase deficiency. In 46,XX and 46,XY groups, other malformations were observed. In the DGD group, 46,XY partial gonadal dysgenesis, mixed gonadal dysgenesis, and ovotesticular DSD were more frequent. Low birth weight was observed in 42 cases of idiopathic 46,XY testicular DSD. The average age at diagnosis was 31.7 months. The final sex of rearing was male in 238 cases and female in 170. Only 6.6% (27 cases) needed sex reassignment. Conclusions. In this large DSD sample with ambiguous genitalia, the 46,XY karyotype was the most frequent; in turn, congenital adrenal hyperplasia was the most frequent etiology. Malformations associated with DSD were common in all groups and low birth weight was associated with idiopathic 46,XY testicular DSD.

Gender Identity and Assignment Recommendations in Disorders of Sex Development Patients: 20 Years’ Experience and Challenges

“…We only included two Klinefelter syndrome patients because of the ambiguous genitalia complaint and we did not incorporate any other Klinefelter syndrome patients. Most of the patients with DSD are referred with ambiguous genitalia (35, [37][38][39]43). In this study, ambiguous genitalia were the most common cause of admissions for all three DSD classifications ( Table 1).…”

“…Similarly, Ocal et al (39) from Turkey found that, 21-OHD and 11-OHD were the most frequency (88.8%) etiology of their 46,XX DSD group. Again, De Paula et al (38) from Brazil with a 408 case series of genital ambiguity, Al-Muttair et al (45) from Saudi Arabia with a total of 120 DSD patients, and Al-Agha et al (46) report that the main etiology of 46,XX DSD was 21-OHD. But, Ganie et al (37) specified that the main referring cause of 46,XX DSD was ovotesticular.…”

“…In our study, the rate of 46,XY DSD patients with diagnosed causes was higher (n:75, 65.2%). 5-alpha reductase deficiency was the first, CAIS and PAIS were also the second main etiologic causes of 46,XY DSD (Table 1, (38,39,41,(45)(46)(47). Contrary to this, Ganie et al (37) report that the main etiological cause of 46,XY DSD was disorder of androgen synthesis or action.…”

Clinical Findings and Follow-Up of 46,XY and 45,X/46,XY Testicular Dysgenesis

“…PGD and MGD account for 15% of the cases of genital ambiguity seen at our DSD service [De Paula et al, 2016]. The relatively large number of patients with these 2 rare disorders allowed us to improve our knowledge about their clinical and histological picture, as well as cytogenetic and molecular findings and outcomes of long term follow-up.…”

Ambiguous genitalia–A social dilemma in Bangladesh: A case report

“…However, another study showed that there has been unsuccessful sexual life of the treated patients [8] . A table of the literature reports on DSD with title, author and journal details is provided in Table 1 [7] , [8] , [9] , [10] , [11] , [12] , [13] , [14] , [15] , [16] , [17] , [18] .…”