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Arquivos Brasileiros De Endocrinologia E Metabologia|January 9, 2013
46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase geneGuilherme Guaragna-Filho, Carla Cristina Telles de Sousa Castro, Rodrigo Ribeiro De Carvalho, et al.
Clinical Genetics|October 9, 2018
A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor-1 (WT1) pathogenic variantNathalia L Gomes, Leila C P de Paula, Juliana M Silva, et al.
Endocrine|March 1, 2023
Long-term cardiometabolic morbidity in young adults with classic 21-hydroxylase deficiency congenital adrenal hyperplasiaBeatrice Righi, Salma R Ali, Jillian Bryce, et al.
Arquivos Brasileiros De Endocrinologia E Metabologia|January 9, 2013
Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiencyCarla Cristina Telles de Sousa Castro, Guilherme Guaragna-Filho, Flavia Leme Calais, et al.
Clinical Endocrinology|October 20, 2021
Growth, puberty and testicular function in boys born small for gestational age with a nonspecific disorder of sex developmentLloyd J W Tack, Saskia van der Straaten, Stefan Riedl, et al.
Jornal De Pediatria|June 30, 2019
Why pediatricians need to know the disorders of sex development: experience of 709 cases in a specialized serviceMayra de Souza El Beck, Carlos W Germano, Beatriz A Barros, et al.
The Journal of Clinical Endocrinology and Metabolism|March 18, 2014
Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3Delanie B Macedo, Ana Paula Abreu, Ana Claudia S Reis, et al.
European Journal of Endocrinology|March 15, 2022
Treatment of congenital adrenal hyperplasia in children aged 0-3 years: a retrospective multicenter analysis of salt supplementation, glucocorticoid and mineralocorticoid medication, growth and blood pressureUta Neumann, Annelieke van der Linde, Ruth E Krone, et al.
International Journal of Endocrinology|December 27, 2016
408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of RearingGeorgette Beatriz De Paula, Beatriz Amstalden Barros, Stela Carpini, et al.
The Journal of Clinical Endocrinology and Metabolism|September 30, 2020
Real-World Estimates of Adrenal Insufficiency-Related Adverse Events in Children With Congenital Adrenal HyperplasiaSalma R Ali, Jillian Bryce, Houra Haghpanahan, et al.
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