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Letter to the Editor re 'Variations of sex development: The first German interdisciplinary consensus paper'.

Sircili MHP, Dénes FT, Mendonca BB.

J Pediatr Urol. 2019 Jul 20. pii: S1477-5131(19)30221-9. doi: 10.1016/j.jpurol.2019.06.026. [Epub ahead of print] No abstract available.


Mobile DNA in Endocrinology: LINE-1 retrotransposon causing Partial Androgen Insensitivity Syndrome.

Batista RL, Yamaguchi K, di Santi Rodrigues A, Nishi MY, Goodier JL, Carvalho LR, Domenice S, Costa EMF, Hazazian H, Mendonca BB.

J Clin Endocrinol Metab. 2019 Aug 8. pii: jc.2019-00144. doi: 10.1210/jc.2019-00144. [Epub ahead of print]


Impact of Long-Term Dexamethasone Therapy on the Metabolic Profile of Patients With 21-Hydroxylase Deficiency.

Seraphim CE, Frassei JS, Pessoa BS, Scalco RC, Miranda MC, Madureira G, Mendonca BB, Bachega TASS.

J Endocr Soc. 2019 Jun 19;3(8):1574-1582. doi: 10.1210/js.2019-00123. eCollection 2019 Aug 1.


Management of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Life.

Wisniewski AB, Batista RL, Costa EMF, Finlayson C, Sircili MHP, Dénes FT, Domenice S, Mendonca BB.

Endocr Rev. 2019 Jul 31. pii: er.2019-00049. doi: 10.1210/er.2019-00049. [Epub ahead of print]


Genetic evidence of the association of DEAH-box helicase 37 defects with 46,XY gonadal dysgenesis spectrum.

Evilen da Silva T, Gomes NL, Lerário AM, Keegan CE, Nishi MY, Carvalho FM, Vilain E, Barseghyanm H, Martinez-Aguayo A, Forclaz MV, Papazian R, Pedroso de Paula LC, Costa EC, Carvalho LR, Jorge AA, Elias F, Mitchell R, Frade Costa EM, Mendonca BB, Domenice S.

J Clin Endocrinol Metab. 2019 Jul 9. pii: jc.2019-00984. doi: 10.1210/jc.2019-00984. [Epub ahead of print]


Evaluation of SHOX defects in the era of next-generation sequencing.

Funari MFA, de Barros JS, Santana LS, Lerario AM, Freire BL, Homma TK, Vasques GA, Mendonca BB, Nishi MY, Jorge AAL.

Clin Genet. 2019 Sep;96(3):261-265. doi: 10.1111/cge.13587. Epub 2019 Jul 4.


KCNJ5 Somatic Mutation Is a Predictor of Hypertension Remission After Adrenalectomy for Unilateral Primary Aldosteronism.

Vilela LAP, Rassi-Cruz M, Guimaraes AG, Moises CCS, Freitas TC, Alencar NP, Petenuci J, Goldbaum TS, Maciel AAW, Pereira MAA, Silva GV, Pio-Abreu A, Zerbini MCN, Cavalcante ACBS, Carnevale FC, Pilan B, Yamauchi F, Srougi V, Tanno FY, Chambo JL, Latronico AC, Mendonca BB, Fragoso MCBV, Bortolotto LA, Drager LF, Almeida MQ.

J Clin Endocrinol Metab. 2019 Oct 1;104(10):4695-4702. doi: 10.1210/jc.2019-00531.


New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism.

Amato LGL, Montenegro LR, Lerario AM, Jorge AAL, Guerra Junior G, Schnoll C, Renck AC, Trarbach EB, Costa EMF, Mendonca BB, Latronico AC, Silveira LFG.

Eur J Endocrinol. 2019 Aug 1;181(2):103-119. doi: 10.1530/EJE-18-0764.


Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery.

Correa FA, Nakaguma M, Madeira JLO, Nishi MY, Abrão MG, Jorge AAL, Carvalho LR, Arnhold IJP, Mendonça BB.

Arch Endocrinol Metab. 2019 May 13;63(2):167-174. doi: 10.20945/2359-3997000000139. Review.


Persistent Poor Metabolic Profile in Postmenopausal Women With Ovarian Hyperandrogenism After Testosterone Level Normalization.

Rocha T, Crespo RP, Yance VVR, Hayashida SA, Baracat EC, Carvalho F, Domenice S, Mendonca BB, Gomes LG.

J Endocr Soc. 2019 Apr 4;3(5):1087-1096. doi: 10.1210/js.2018-00405. eCollection 2019 May 1.


Clinical spectrum of Li-Fraumeni syndrome/Li-Fraumeni-like syndrome in Brazilian individuals with the TP53 p.R337H mutation.

Ferreira AM, Brondani VB, Helena VP, Charchar HLS, Zerbini MCN, Leite LAS, Hoff AO, Latronico AC, Mendonca BB, Diz MDPE, de Almeida MQ, Fragoso MCBV.

J Steroid Biochem Mol Biol. 2019 Jun;190:250-255. doi: 10.1016/j.jsbmb.2019.04.011. Epub 2019 Apr 8.


Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR.

Nakaguma M, Correa FA, Santana LS, Benedetti AFF, Perez RV, Huayllas MKP, Miras MB, Funari MFA, Lerario AM, Mendonca BB, Carvalho LRS, Jorge AAL, Arnhold IJP.

Endocr Connect. 2019 May 1;8(5):590-595. doi: 10.1530/EC-19-0085.


Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency.

Franca MM, Han X, Funari MFA, Lerario AM, Nishi MY, Fontenele EGP, Domenice S, Jorge AAL, Garcia-Galiano D, Elias CF, Mendonca BB.

J Clin Endocrinol Metab. 2019 Jul 1;104(7):2827-2841. doi: 10.1210/jc.2018-02485.


Targeted Assessment of G0S2 Methylation Identifies a Rapidly Recurrent, Routinely Fatal Molecular Subtype of Adrenocortical Carcinoma.

Mohan DR, Lerario AM, Else T, Mukherjee B, Almeida MQ, Vinco M, Rege J, Mariani BMP, Zerbini MCN, Mendonca BB, Latronico AC, Marie SKN, Rainey WE, Giordano TJ, Fragoso MCBV, Hammer GD.

Clin Cancer Res. 2019 Jun 1;25(11):3276-3288. doi: 10.1158/1078-0432.CCR-18-2693. Epub 2019 Feb 15.


Premature Pubarche due to Exogenous Testosterone Gel or Intense Diaper Rash Prevention Cream Use: A Case Series.

Ramos CO, Macedo DB, Bachega TASS, Nascimento ML, Madureira G, Latronico AC, Brito VN, de Mendonca BB.

Horm Res Paediatr. 2019 Jan 24:1-5. doi: 10.1159/000495664. [Epub ahead of print]


IGF-1 assessed by pubertal status has the best positive predictive power for GH deficiency diagnosis in peripubertal children.

Inoue-Lima TH, Vasques GA, Scalco RC, Nakaguma M, Mendonca BB, Arnhold IJP, Jorge AAL.

J Pediatr Endocrinol Metab. 2019 Feb 25;32(2):173-179. doi: 10.1515/jpem-2018-0435.


Testosterone replacement in androgen insensitivity: is there an advantage?

Batista RL, Mendonca BB.

Ann Transl Med. 2018 Nov;6(Suppl 1):S85. doi: 10.21037/atm.2018.10.73. No abstract available.


Classic congenital adrenal hyperplasia and its impact on reproduction.

Gomes LG, Bachega TASS, Mendonca BB.

Fertil Steril. 2019 Jan;111(1):7-12. doi: 10.1016/j.fertnstert.2018.11.037. Review.


Primary malignant tumors of the adrenal glands.

Almeida MQ, Bezerra-Neto JE, Mendonça BB, Latronico AC, Fragoso MCBV.

Clinics (Sao Paulo). 2018 Dec 10;73(suppl 1):e756s. doi: 10.6061/clinics/2018/e756s. Review.


Methylome profiling of healthy and central precocious puberty girls.

Bessa DS, Maschietto M, Aylwin CF, Canton APM, Brito VN, Macedo DB, Cunha-Silva M, Palhares HMC, de Resende EAMR, Borges MF, Mendonca BB, Netchine I, Krepischi ACV, Lomniczi A, Ojeda SR, Latronico AC.

Clin Epigenetics. 2018 Nov 22;10(1):146. doi: 10.1186/s13148-018-0581-1.


DLK1 Is a Novel Link Between Reproduction and Metabolism.

Gomes LG, Cunha-Silva M, Crespo RP, Ramos CO, Montenegro LR, Canton A, Lees M, Spoudeas H, Dauber A, Macedo DB, Bessa DS, Maciel GA, Baracat EC, Jorge AAL, Mendonca BB, Brito VN, Latronico AC.

J Clin Endocrinol Metab. 2019 Jun 1;104(6):2112-2120. doi: 10.1210/jc.2018-02010.


A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor-1 (WT1) pathogenic variant.

Gomes NL, de Paula LCP, Silva JM, Silva TE, Lerário AM, Nishi MY, Batista RL, Faria Júnior JAD, Moraes D, Costa EMF, Hemesath TP, Guaragna-Filho G, Leite JCL, Carvalho CG, Domenice S, Costa EC, Mendonca BB.

Clin Genet. 2019 Jan;95(1):172-176. doi: 10.1111/cge.13459. Epub 2018 Oct 28.


Androgen receptor mRNA analysis from whole blood: a low-cost strategy for detection of androgen receptor gene splicing defects.

Silva JM, Batista RL, De Santi Rodrigues A, Nishi MY, Costa EMF, Domenice S, Carvalho LRS, Mendonca BB.

Clin Genet. 2018 Nov;94(5):489-490. doi: 10.1111/cge.13437. Epub 2018 Sep 7.


Applicability of a novel mathematical model for the prediction of adult height and age at menarche in girls with idiopathic central precocious puberty.

Lopes MC, Ramos CO, Latronico AC, Mendonça BB, Brito VN.

Clinics (Sao Paulo). 2018 Jul 26;73:e480. doi: 10.6061/clinics/2018/e480.


Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency.

França MM, Nishi MY, Funari MFA, Lerario AM, Baracat EC, Hayashida SAY, Maciel GAR, Jorge AAL, Mendonca BB.

Eur J Med Genet. 2019 Mar;62(3):186-189. doi: 10.1016/j.ejmg.2018.07.008. Epub 2018 Jul 10.


Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development.

Sproll P, Eid W, Gomes CR, Mendonca BB, Gomes NL, Costa EM, Biason-Lauber A.

Mol Genet Genomic Med. 2018 Sep;6(5):785-795. doi: 10.1002/mgg3.445. Epub 2018 Jul 11.


An update of genetic basis of PCOS pathogenesis.

Crespo RP, Bachega TASS, Mendonça BB, Gomes LG.

Arch Endocrinol Metab. 2018 Jun;62(3):352-361. doi: 10.20945/2359-3997000000049. Review.


Androgen insensitivity syndrome: a review.

Batista RL, Costa EMF, Rodrigues AS, Gomes NL, Faria JA Jr, Nishi MY, Arnhold IJP, Domenice S, Mendonca BB.

Arch Endocrinol Metab. 2018 Mar-Apr;62(2):227-235. doi: 10.20945/2359-3997000000031. Review.


Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region.

Macedo DB, França MM, Montenegro LR, Cunha-Silva M, Best DS, Abreu AP, Kaiser UB, Mendonca BB, Jorge AAL, Brito VN, Latronico AC.

Neuroendocrinology. 2018;107(2):127-132. doi: 10.1159/000490059. Epub 2018 May 15.


Low estrogen doses normalize testosterone and estradiol levels to the female range in transgender women.

Cunha FS, Domenice S, Sircili MHP, Mendonca BB, Costa EMF.

Clinics (Sao Paulo). 2018;73:e86. doi: 10.6061/clinics/2018/e86. Epub 2018 May 3.


Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis.

Gomes NL, Lerário AM, Machado AZ, Moraes DR, Silva TED, Arnhold IJP, Batista RL, Faria Júnior JAD, Costa EF, Nishi MY, Inacio M, Domenice S, Mendonca BB.

Clin Endocrinol (Oxf). 2018 Apr 18. doi: 10.1111/cen.13717. [Epub ahead of print]


Spontaneous fertility in a male patient with testotoxicosis despite suppression of FSH levels.

Cunha-Silva M, Brito VN, Macedo DB, Bessa DS, Ramos CO, Lima LG, Barroso PS, Arnhold IJP, Segaloff DL, Mendonca BB, Latronico AC.

Hum Reprod. 2018 May 1;33(5):914-918. doi: 10.1093/humrep/dey049.


Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing.

Correa FA, França MM, Fang Q, Ma Q, Bachega TA, Rodrigues A, Ozel BA, Li JZ, Mendonca BB, Jorge AAL, Carvalho LR, Camper SA, Arnhold IJP.

Arch Endocrinol Metab. 2017 Dec;61(6):633-636. doi: 10.1590/2359-3997000000311.


Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor.

Batista RL, Rodrigues AS, Machado AZ, Nishi MY, Cunha FS, Silva RB, Costa EMF, Mendonca BB, Domenice S.

J Pediatr Endocrinol Metab. 2018 Jan 26;31(2):223-228. doi: 10.1515/jpem-2017-0095.


Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes.

Correa FA, Jorge AA, Nakaguma M, Canton AP, Costa SS, Funari MF, Lerario AM, Franca MM, Carvalho LR, Krepischi AC, Arnhold IJ, Rosenberg C, Mendonca BB.

Clin Endocrinol (Oxf). 2018 Mar;88(3):425-431. doi: 10.1111/cen.13535. Epub 2018 Jan 10.


Successful Pregnancies After Adequate Hormonal Replacement in Patients With Combined Pituitary Hormone Deficiencies.

Correa FA, Bianchi PHM, Franca MM, Otto AP, Rodrigues RJM, Ejzenberg D, Serafini PC, Baracat EC, Francisco RPV, Brito VN, Arnhold IJP, Mendonca BB, Carvalho LR.

J Endocr Soc. 2017 Sep 29;1(10):1322-1330. doi: 10.1210/js.2017-00005. eCollection 2017 Oct 1.


Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development.

Baetens D, Güran T, Mendonca BB, Gomes NL, De Cauwer L, Peelman F, Verdin H, Vuylsteke M, Van der Linden M; ESR2 STUDY GROUP, Atay Z, Bereket A, de Krijger RR, Preter K, Domenice S, Turan S, Stoop H, Looijenga LH, De Bosscher K, Cools M, De Baere E.

Genet Med. 2018 Jul;20(7):717-727. doi: 10.1038/gim.2017.163. Epub 2017 Oct 26.


Malignant testicular germ cell tumors in postpubertal individuals with androgen insensitivity: prevalence, pathology and relevance of single nucleotide polymorphism-based susceptibility profiling.

Cools M, Wolffenbuttel KP, Hersmus R, Mendonca BB, Kaprová J, Drop SLS, Stoop H, Gillis AJM, Oosterhuis JW, Costa EMF, Domenice S, Nishi MY, Wunsch L, Quigley CA, T'Sjoen G, Looijenga LHJ.

Hum Reprod. 2017 Dec 1;32(12):2561-2573. doi: 10.1093/humrep/dex300.


An activating mutation in the CRHR1 gene is rarely associated with pituitary-dependent hyperadrenocorticism in poodles.

De-Marco V, Carvalho LR, Guzzo MF, Oliveira PSL, Gomes LG, Mendonca BB.

Clinics (Sao Paulo). 2017 Oct;72(9):575-581. doi: 10.6061/clinics/2017(09)09.


A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure.

França MM, Funari MFA, Lerario AM, Nishi MY, Pita CC, Fontenele EGP, Mendonca BB.

Endocrine. 2017 Dec;58(3):442-447. doi: 10.1007/s12020-017-1459-2. Epub 2017 Oct 24.


Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing.

França MM, Funari MFA, Nishi MY, Narcizo AM, Domenice S, Costa EMF, Lerario AM, Mendonca BB.

Clin Genet. 2018 Feb;93(2):408-411. doi: 10.1111/cge.13156. Epub 2017 Dec 26.


A severe phenotype of Kennedy disease associated with a very large CAG repeat expansion.

Madeira JLO, Souza ABC, Cunha FS, Batista RL, Gomes NL, Rodrigues AS, Mennucci de Haidar Jorge F, Chadi G, Callegaro D, Mendonca BB, Costa EMF, Domenice S.

Muscle Nerve. 2018 Jan;57(1):E95-E97. doi: 10.1002/mus.25952. Epub 2017 Sep 18. No abstract available.


A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome.

Batista RL, Rodrigues ADS, Nishi MY, Gomes NL, Faria JAD Junior, Moraes DR, Carvalho LR, Costa EMF, Domenice S, Mendonca BB.

J Steroid Biochem Mol Biol. 2017 Nov;174:14-16. doi: 10.1016/j.jsbmb.2017.07.020. Epub 2017 Jul 22.


Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations.

Madeira JL, Nishi MY, Nakaguma M, Benedetti AF, Biscotto IP, Fernandes T, Pequeno T, Figueiredo T, Franca MM, Correa FA, Otto AP, Abrão M, Miras MB, Santos S, Jorge AA, Costalonga EF, Mendonca BB, Arnhold IJ, Carvalho LR.

Clin Endocrinol (Oxf). 2017 Dec;87(6):725-732. doi: 10.1111/cen.13430. Epub 2017 Sep 4.


Adjuvant radiotherapy for the primary treatment of adrenocortical carcinoma: Are we offering the best?

Srougi V, de Bessa J Jr, Tanno FY, Ferreira AM, Hoff AO, Bezerra JE, Almeida CM, Almeida MQ, Mendonça BB, Nahas WC, Chambô JL, Srougi M, Fragoso MCBV.

Int Braz J Urol. 2017 Sep-Oct;43(5):841-848. doi: 10.1590/S1677-5538.IBJU.2017.0095.


Global Application of the Assessment of Communication Skills of Paediatric Endocrinology Fellows in the Management of Differences in Sex Development Using the ESPE E-Learning.Org Portal.

Kranenburg LJC, Reerds STH, Cools M, Alderson J, Muscarella M, Magrite E, Kuiper M, Abdelgaffar S, Balsamo A, Brauner R, Chanoine JP, Deeb A, Fechner P, German A, Holterhus PM, Juul A, Mendonca BB, Neville K, Nordenstrom A, Oostdijk W, Rey RA, Rutter MM, Shah N, Luo X, Grijpink K, Drop SLS.

Horm Res Paediatr. 2017;88(2):127-139. doi: 10.1159/000475992. Epub 2017 Jul 7.


The role of ARMC5 in human cell cultures from nodules of primary macronodular adrenocortical hyperplasia (PMAH).

Cavalcante IP, Nishi M, Zerbini MCN, Almeida MQ, Brondani VB, Botelho MLAA, Tanno FY, Srougi V, Chambo JL, Mendonca BB, Bertherat J, Lotfi CFP, Fragoso MCBV.

Mol Cell Endocrinol. 2018 Jan 15;460:36-46. doi: 10.1016/j.mce.2017.06.027. Epub 2017 Jul 1.


Assessment of stress levels in girls with central precocious puberty before and during long-acting gonadotropin-releasing hormone agonist treatment: a pilot study.

Menk TAS, Inácio M, Macedo DB, Bessa DS, Latronico AC, Mendonca BB, Brito VN.

J Pediatr Endocrinol Metab. 2017 May 24;30(6):657-662. doi: 10.1515/jpem-2016-0425.


A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family.

França MM, Lerario AM, Funari MFA, Nishi MY, Narcizo AM, de Mello MP, Guerra-Junior G, Maciel-Guerra AT, Mendonça BB.

Sex Dev. 2017;11(3):137-142. doi: 10.1159/000477193. Epub 2017 Jun 8.


Long-Term Outcomes of Patients with Central Precocious Puberty due to Hypothalamic Hamartoma after GnRHa Treatment: Anthropometric, Metabolic, and Reproductive Aspects.

Ramos CO, Latronico AC, Cukier P, Macedo DB, Bessa DS, Cunha-Silva M, Arnhold IJ, Mendonca BB, Brito VN.

Neuroendocrinology. 2018;106(3):203-210. doi: 10.1159/000477584. Epub 2017 May 30.


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