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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 Feb 15. pii: clincanres.2693.2018. doi: 10.1158/1078-0432.CCR-18-2693. [Epub ahead of print]


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.


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. 2018 Nov 19. doi: 10.1210/jc.2018-02010. [Epub ahead of print]


Psychosexual Aspects, Effects of Prenatal Androgen Exposure, and Gender Change in 46,XY Disorders of Sex Development.

Batista RL, Inácio M, Arnhold IJP, Gomes NL, Faria JA Jr, de Moraes DR, Costa EMF, Domenice S, de Mendonca BB.

J Clin Endocrinol Metab. 2018 Nov 1. doi: 10.1210/jc.2018-01866. [Epub ahead of print]


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.


Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47,XXY Karyotype.

Batista RL, Rodrigues AS, Nishi MY, Feitosa ACR, Gomes NLRA, Junior JAF, Domenice S, Costa EMF, de Mendonça BB.

Sex Dev. 2017;11(2):78-81. doi: 10.1159/000468957. Epub 2017 Apr 29.


Discriminating between virilizing ovary tumors and ovary hyperthecosis in postmenopausal women: clinical data, hormonal profiles and image studies.

Yance VRV, Marcondes JAM, Rocha MP, Barcellos CRG, Dantas WS, Avila AFA, Baroni RH, Carvalho FM, Hayashida SAY, Mendonca BB, Domenice S.

Eur J Endocrinol. 2017 Jul;177(1):93-102. doi: 10.1530/EJE-17-0111. Epub 2017 Apr 21.


Triple A Syndrome: Preliminary Response to the Antioxidant N-Acetylcysteine Treatment in a Child.

Fragoso MCBV, Albuquerque EVA, Cardoso ALA, da Rosa PWL, de Paulo RB, Schimizu MHM, Seguro AC, Passarelli M, Koehler K, Huebner A, Almeida MQ, Latronico AC, Arnhold IJP, Mendonca BB.

Horm Res Paediatr. 2017;88(2):167-171. doi: 10.1159/000465520. Epub 2017 Apr 10.


Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty.

Dauber A, Cunha-Silva M, Macedo DB, Brito VN, Abreu AP, Roberts SA, Montenegro LR, Andrew M, Kirby A, Weirauch MT, Labilloy G, Bessa DS, Carroll RS, Jacobs DC, Chappell PE, Mendonca BB, Haig D, Kaiser UB, Latronico AC.

J Clin Endocrinol Metab. 2017 May 1;102(5):1557-1567. doi: 10.1210/jc.2016-3677.


Mutation analysis of NANOS3 in Brazilian women with primary ovarian failure.

Sousa BL, Nishi MY, Santos MG, Brito VN, Domenice S, Mendonca BB.

Clinics (Sao Paulo). 2016 Dec 1;71(12):695-698. doi: 10.6061/clinics/2016(12)03.


Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.

Domenice S, Machado AZ, Ferreira FM, Ferraz-de-Souza B, Lerario AM, Lin L, Nishi MY, Gomes NL, da Silva TE, Silva RB, Correa RV, Montenegro LR, Narciso A, Costa EM, Achermann JC, Mendonca BB.

Birth Defects Res C Embryo Today. 2016 Dec;108(4):309-320. doi: 10.1002/bdrc.21145. Review.


Neonatal 17-hydroxyprogesterone levels adjusted according to age at sample collection and birthweight improve the efficacy of congenital adrenal hyperplasia newborn screening.

Hayashi GY, Carvalho DF, de Miranda MC, Faure C, Vallejos C, Brito VN, Rodrigues AS, Madureira G, Mendonca BB, Bachega TA.

Clin Endocrinol (Oxf). 2017 Apr;86(4):480-487. doi: 10.1111/cen.13292. Epub 2017 Jan 23.


Reprint of "Steroid 5α-reductase 2 deficiency".

Mendonca BB, Batista RL, Domenice S, Costa EM, Arnhold IJ, Russell DW, Wilson JD.

J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):95-100. doi: 10.1016/j.jsbmb.2016.11.006. Epub 2016 Nov 11. Review.


Surgical Treatment after Failed Primary Correction of Urogenital Sinus in Female Patients with Virilizing Congenital Adrenal Hyperplasia: Are Good Results Possible?

Sircili MH, Bachega TS, Madureira G, Gomes L, Mendonca BB, Dénes FT.

Front Pediatr. 2016 Oct 27;4:118. eCollection 2016.


Non-coding variation in disorders of sex development.

Baetens D, Mendonça BB, Verdin H, Cools M, De Baere E.

Clin Genet. 2017 Feb;91(2):163-172. doi: 10.1111/cge.12911. Review.


Long-term Results after CT-Guided Percutaneous Ethanol Ablation for the Treatment of Hyperfunctioning Adrenal Disorders.

Frenk NE, Sebastianes F, Lerario AM, Fragoso MC, Mendonca BB, Menezes MR.

Clinics (Sao Paulo). 2016 Oct 1;71(10):600-605. doi: 10.6061/clinics/2016(10)08.


Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency.

Bonamichi BD, Santiago SL, Bertola DR, Kim CA, Alonso N, Mendonca BB, Bachega TA, Gomes LG.

Arch Endocrinol Metab. 2016 Oct;60(5):500-504. doi: 10.1590/2359-3997000000213. Epub 2016 Oct 10.

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