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Prophylactic gonadectomy in 46 XY females; why, where and when?

Basri NI, Soon CH, Ali A, Abdul Ghani NA, Zainuddin AA

Horm Mol Biol Clin Investig, 2021 Mar 08;42(3):325-328.
PMID: 33675193 DOI: 10.1515/hmbci-2021-0001

OBJECTIVES: We compared cases of phenotypic female patients who presented with male karyotype and underwent prophylactic gonadectomy.
CASE PRESENTATION: Five patients with female phenotypes presented in early adulthood with primary amenorrhoea with varying degrees of puberty. One was tall with breast development. Another was very short with clitoromegaly and multiple co-morbidities. The other three had no secondary sexual characteristics. They were examined, after which hormonal profile, karyotyping, ultrasound examination and magnetic resonance imaging were done to assess the site of gonads. Gonadectomy was performed once their 46 XY karyotype was confirmed. Results of histopathological examination of their gonads ranged from dysgenetic gonads to having testicular tissues and malignancy.
CONCLUSION: Female patients with 46 XY karyotypes require prophylactic gonadectomy performed at different timings depending on diagnosis due to the malignancy risk. Pre-operative assessment is essential to locate the gonads prior to surgery.
A Multicenter Cross-Sectional Study of Malaysian Females With Congenital Adrenal Hyperplasia: Their Body Image and Their Perspectives on Feminizing Surgery

Zainuddin AA, Grover SR, Soon CH, Ghani NAA, Mahdy ZA, Manaf MRA, et al.

J Pediatr Adolesc Gynecol, 2020 Oct;33(5):477-483.
PMID: 32376362 DOI: 10.1016/j.jpag.2020.04.008

OBJECTIVE: To explore the impact of congenital adrenal hyperplasia (CAH) on body image in Malaysian females with CAH and to understand the perspectives of these young women and their parents toward feminizing genitoplasty (FG).
DESIGN: Multi-center cross-sectional study.
SETTING: Two tertiary medical centers in Malaysia.
PARTICIPANTS: A total of 59 patients with CAH who were raised as females and more than 10 years old, and their parents.
METHODS: The CAH respondents completed the validated and translated Body Image Disturbance Questionnaires (BIDQ). All CAH respondents and their parents underwent semi-structured interviews to explore their views on FG.
MAIN OUTCOME MEASURES: Body image disturbance score and perspectives on FG.
RESULTS: The 59 CAH respondents consisted of 12 children, 29 adolescents, and 18 adults. The majority were of Malay ethnicity (64.4%) with classical CAH (98.3%) and had undergone FG (n = 55, 93.2%). For the BIDQ scores, the median score (interquartile range) for general body image was 1.29 (0.71), range 1.00-3.29, whereas the genital appearance score was 1.07 (0.39), range 1.00-4.29, revealing a greater concern for general body parts over genitalia. With regards to FG, it was perceived as necessary. Infancy and early childhood were perceived as the best timing for first FG by both respondents and parents, most preferring single-stage over 2-stage surgery.
CONCLUSIONS: General body appearance concerns were greater than for genital appearance, with more impact on the patients' lives. Contrary to much international opinion, feminizing surgery was perceived as necessary and appropriate by CAH respondents and their families, and should be offered in infancy or early childhood. Future qualitative studies are recommended.
Fulltext Malaysian Females With Congenital Adrenal Hyperplasia: Surgical Outcomes and Attitudes

Zainuddin AA, Grover SR, Soon CH, Nur Azurah AG, Mahdy ZA, Wu LL, et al.

Front Pediatr, 2019;7:144.
PMID: 31058121 DOI: 10.3389/fped.2019.00144

Background: Girls born with congenital adrenal hyperplasia have virilized external genitalia. There is considerable debate regarding both the outcomes of feminizing genitoplasty and timing of the surgery in this population. Objective: To investigate outcomes of females 46,XX individuals with CAH in Malaysia, the surgical outcomes of feminizing genitoplasty (FG) and their attitudes toward surgery. Study Design: This is a cross-sectional study involving the two main tertiary centers in Malaysia. All 46,XX patients with CAH and raised female, who had undergone FG were identified and invited to participate. Data on socio-demographic, medical profiles, and attitudes toward surgery were collected. A standardized evaluation of the external genitalia was undertaken including the anatomic and cosmetic evaluation by independent gynecologists. Results: Of 61 individuals identified, 59 participated-consisting of children (n = 12), adolescents (n = 29) and adults (n = 18). All but one had classical CAH (98.3%) and had undergone FG (n = 55, 93.2%) with surgery mostly undertaken by pediatric surgeons trained in DSD work (n = 44, 74.6%). Complications overall were low (20.3%), with repeat surgery rate of 9.1%. External genital examination was performed in 38 participants. Overall 36.8% had absent clitoral glands and 39.5% had a persistent urogenital sinus and in 10.5%, no vaginal orifices were seen. Poor cosmetic outcomes were present in 42.1% with 55.3% recommended for further assessment under general anesthetic. Almost half participants did not venture an opinion on FG, those who did varied from having a positive attitude toward it (18 participants) to 3 opining that it should not be done, or avoided or delayed. From the participants, 35.5% preferred FG to be done early in life compared to 44.0% of the parents. Conclusions: The reoperation rates of the feminizing genitoplasty surgeries were low however due to the anatomic and cosmetic outcomes, reassessment of the external genitalia of these CAH patients may be required once they consider becoming sexually active as they may require further treatment. Many factors such as cultural sensitivities and access to medical treatment and late diagnoses have an impact on attitudes toward FG.

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