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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. 2017 Oct 16. doi: 10.1111/cge.13156. [Epub ahead of print]


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. 2017 Sep 6. doi: 10.1002/mus.25952. [Epub ahead of print] 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 Jul 22. pii: S0960-0760(17)30185-1. doi: 10.1016/j.jsbmb.2017.07.020. [Epub ahead of print]


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 Jul 22. doi: 10.1111/cen.13430. [Epub ahead of print]


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. 2017 Jul 1. pii: S0303-7207(17)30354-4. doi: 10.1016/j.mce.2017.06.027. [Epub ahead of print]


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 23. pii: /j/jpem.ahead-of-print/jpem-2016-0425/jpem-2016-0425.xml. doi: 10.1515/jpem-2016-0425. [Epub ahead of print]


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 GnRH Analog Treatment: Anthropometric, Metabolic and Reproductive Aspects.

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

Neuroendocrinology. 2017 May 30. doi: 10.1159/000477584. [Epub ahead of print]


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.


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