Výsledky vyhledávání - "M T M Baptista"

New frameshift mutation in the 5α‐reductase type 2 gene in a Brazilian patient with 5α‐reductase deficiency

Autor: Gil Guerra Júnior, M. T. M. Baptista, Lúcio Fábio Caldas Ferraz, Christine Hackel, Andréa Trevas Maciel-Guerra

Publikováno v: American Journal of Medical Genetics. 87:221-225

Male pseudohermaphroditism caused by steroid 5alpha-reductase deficiency is an autosomal recessive disorder. The enzyme steroid 5alpha-reductase 2 (encoded by the SRD5A2 gene) catalyses the conversion of testosterone to dihydrotestosterone, which is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3d4c96d02b32e126da11d970cc486f5f
https://doi.org/10.1002/(sici)1096-8628(19991126)87:3<221::aid-ajmg5>3.0.co

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Congenital Perineal Lipoma Presenting as Ambiguous Genitalia

Autor: M T M Baptista, A M E Aun, Antonia Paula Marques-de-Faria, Gil Guerra-Júnior, L P Beraldo, Márcio Lopes Miranda, S Guimaraes Moraes, Andréa Trevas Maciel-Guerra

Publikováno v: European Journal of Pediatric Surgery. 18:269-271

Background Congenital perineal lipoma is extremely rare and may lead to a misdiagnosis of ambiguous genitalia. Case reports We report on two girls referred to our service for ambiguous genitalia. Patient 1 (17 days old) and patient 2 (2 months old) h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad5eada93c00c8ee082a562e34eab22f
https://doi.org/10.1055/s-2008-1038366

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A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism

Autor: Ana Claudia Latronico, Milena Gurgel Teles, Gil Guerra-Júnior, Alexander A. L. Jorge, Berenice B. Mendonca, Ursula B. Kaiser, Elaine Maria Frade Costa, Abir Mukherjee, M. T. M. Baptista, Daiane Beneduzzi, Suzy D.C. Bianco, Ericka B. Trarbach, M. de Castro, Sekoni D. Noel

Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

ContextLoss-of-function mutations of the kisspeptin-1 receptor gene, KISS1R, have been identified in patients with normosmic isolated hypogonadotropic hypogonadism (nIHH).ObjectiveTo investigate KISS1R defects in patients with absent or delayed puber

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b3306b2f47e7c0d6dccbc7ebe8c7826

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Turner's Syndrome and Subclinical Autoimmune Thyroid Disease: A Two-Year Follow-up Study

Autor: Filho Mb, Allan O. Santos, M T M Baptista, Magna La, Edwaldo E. Camargo, de Lemos-Marini Sh, Gil Guerra-Júnior, Andréa Trevas Maciel-Guerra, Carla C.M. Medeiros

Publikováno v: Journal of Pediatric Endocrinology and Metabolism. 22

Although autoimmune thyroid disease (AITD) is frequent in Turner's syndrome (TS), followup studies are scant, and there are none regarding subclinical thyroiditis. We investigated thyroid function and morphology in 17 patients with TS (mean age 14.6

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7cda7a1c51a6c0c2bc6e97776367ddf
https://doi.org/10.1515/jpem.2009.22.2.109

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Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes

Autor: Gil Guerra, Celso Eduardo Benedetti, Andréa Trevas Maciel-Guerra, Juliana Godoy Assumpção, Marcia Ribeiro Scolfaro, M. P. De Mello, M T M Baptista

Publikováno v: Journal of molecular medicine (Berlin, Germany). 80(12)

The SRY gene (sex-determining region of the Y chromosome) initiates the process of male sex differentiation in mammalians. In humans mutations in the SRY gene have been reported to account for 10-15% of the XY sex reversal cases. We describe here two

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f02779af9b452ae8d9e1188e56e1c89
https://pubmed.ncbi.nlm.nih.gov/12483463

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Evaluation of the tubular and interstitial functions of the testis in 46,XY patients with ambiguous genitalia

Autor: Eliana Gabas Stuchi-Perez, Ribeiro Scolfaro M, De Castro M, Guerra Júnior G, Christine Hackel, Andréa Trevas Maciel-Guerra, Lukas-Croisier C, M T M Baptista, Antonia Paula Marques-de-Faria

Publikováno v: Journal of pediatric endocrinologymetabolism : JPEM. 13(6)

Investigation of the origin of sexual ambiguity is complex. Although testicular function has traditionally been assessed only by examining the steroidogenic capacity of Leydig cells and spermatogenesis, it has recently been shown that the measurement

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58249eae05fea003ac6aee91452f207c
https://pubmed.ncbi.nlm.nih.gov/10905384

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P-1343 - Sexual difference, identification and object choice in brazilian individuals with sex differentiation disorders: a qualitative study

Autor: R.B. Paiva E. Silva, Adriano Morad Bley, Egberto Ribeiro Turato, Gil Guerra, M T M Baptista, Antonia Paula Marques-de-Faria, Carlos Roberto Soares Freire de Rivorêdo, Andréa Trevas Maciel-Guerra

Publikováno v: European Psychiatry. 27:1

Introduction Over the last two decades, through the voices of groups including non-governmental organizations, persons bearing sex differentiation disorders have begun to question when and how one should decide in favor of or against surgical interve

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::908d53ca3bcfb7f73ee70fb8f3a23850
https://doi.org/10.1016/s0924-9338(12)75510-4

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True agonadism: report of a case analyzed with Y-specific DNA probes

Autor: M. T. M. Baptista, Maricilda Palandi de Mello, Antonia Paula Marques-de-Faria, Andréa Trevas Maciel-Guerra, Gil Guerra, Solange B. Farah, Joaquim Silva, Heraldo Mendes Garmes, Walter Pinto

Publikováno v: American journal of medical genetics. 41(4)

We report on a 5-year-old girl with a male karyotype (46,XY), severe psychomotor and physical retardation, minor anomalies, and female external genitalia with a blindly ending vagina. She has normal adrenal function, prepubertal serum gonadotropin an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3defbab50ea3997b46a8a5293dc78838
https://pubmed.ncbi.nlm.nih.gov/7702082

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ETIOLOGIC DIAGNOSIS IN 126 CASES OF SEX AMBIGUITY

Autor: Gil Guerra, Antonia Paula Marques-de-Faria, Roberto Benedito de Paiva e Silva, M. T. M. Baptista, Andréa Trevas Maciel-Guerra

Publikováno v: Pediatric Research. 38:621-621

The complexity of human sex differentiation becomes manifest in the variety of diseases associated with sex ambiguity (SA). There are a few clinical centers especially dedicated to the managament of such patients, and hence, few large series have bee

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9f7f3ea101f151287e754ace2da5385c
https://doi.org/10.1203/00006450-199510000-00028

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