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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.

SUBMITTER: De Paula GB

PROVIDER: S-EPMC5149677 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature

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

De Paula Georgette Beatriz GB Barros Beatriz Amstalden BA Carpini Stela S Tincani Bruna Jordan BJ Mazzola Tais Nitsch TN Sanches Guaragna Mara M Piveta Cristiane Santos da Cruz CS de Oliveira Laurione Candido LC Andrade Juliana Gabriel Ribeiro JG Guaragna-Filho Guilherme G Guaragna-Filho Guilherme G Barbieri Pedro Perez PP Ferreira Nathalia Montibeler NM Miranda Marcio Lopes ML Gonçalves Ezequiel Moreira EM Morcillo Andre Moreno AM Viguetti-Campos Nilma Lucia NL Lemos-Marini Sofia Helena Valente SH Silva Roberto Benedito de Paiva RB Marques-de-Faria Antonia Paula AP De Mello Maricilda Palandi MP Maciel-Guerra Andrea Trevas AT Guerra-Junior Gil G

International journal of endocrinology 20161128

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 developme ...[more]

PMID: 28018429

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Project description:BackgroundIn recent years, neoadjuvant immunotherapy combined with chemotherapy has been used to treat locally advanced non-small cell lung cancer (NSCLC); however, no data are available to guide the selection of patients suitable for radical resection. In this paper, we report a clinical mode based on a multidisciplinary team (MDT).MethodsWe retrospectively analyzed the clinical data of patients with advanced NSCLC who were treated in our center between 26 December, 2019 and 1 October, 2021. These cases received an MDT assessment first. Eligible patients then received chemotherapy combined with personalized neoadjuvant immunotherapy. Adverse events were recorded. Chest computed tomography (CT) was performed every other cycle for tumor assessment. Radical resection was subsequently performed for potentially resectable tumors. Intraoperative conditions and surgical complications were recorded. The resected specimens were evaluated to determine the response to neoadjuvant therapy.ResultsThe MDT team selected a total of 35 patients (squamous cell carcinoma: n=26, adenocarcinoma: n=8, adenosquamous carcinoma: n=1) for radical resection following neoadjuvant immunotherapy combined with chemotherapy. According to the Response Evaluation Criteria in Solid Tumors (RECIST) findings, 1 patient had complete remission, 27 had partial remission, 6 had progressive disease, and 1 had stable disease. All participants underwent radical resection, including video-assisted thoracoscopic surgery [VATS; 32 (91.4%)], sleeve resection [7 (20.0%)], and multilobar resection [7 (20.0%)]. A total of 17 patients (48.6%) achieved complete pathological remission, and 10 (28.6%) achieved major pathological remission. After surgery, the pathological grade was reduced in 33 patients (94.2%); the RECIST findings were unrelated to postoperative pathological remission (P=0.15).ConclusionsThe MDT mode helps to select suitable patients for radical resection and results in satisfactory pathological remission.

Dataset Information

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

Publications

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

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