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Referências encontradas : 228 [refinar]
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[PMID]:28847746
[Au] Autor:Yang Z; Ye L; Wang W; Zhao Y; Wang W; Jia H; Dong Z; Chen Y; Wang W; Ning G; Sun S
[Ad] Endereço:Shanghai Clinical Center for Endocrine and Metabolic Diseases, Department of Endocrinology, Shanghai Institute of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiao Tong University, School of Medicine, 197 Ruijin 2nd Road, Shanghai 200025, PR China.
[Ti] Título:17ß-Hydroxysteroid dehydrogenase 3 deficiency: Three case reports and a systematic review.
[So] Source:J Steroid Biochem Mol Biol;174:141-145, 2017 Nov.
[Is] ISSN:1879-1220
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:17ß-Hydroxysteroid dehydrogenase 3 deficiency is a rare autosomal recessive cause of 46, XY disorders of sex development resulting from HSD17B3 gene mutations, however, no case has been reported in East Asia. The aim of this study was to report three Chinese 46, XY females with 17ß-HSD3 deficiency in a single center and perform a systematic review of the literature. Clinical examination, endocrine evaluation and HSD17B3 gene sequencing were performed in the three Chinese phenotypically females (two sisters and one unrelated patient). Relevant articles were searched by using the term "HSD17B3" OR "17beta-HSD3 gene" with restrictions on language (English) and species (human) in Pubmed and Embase. All the three phenotypically female subjects showed 46, XY karyotype, inguinal masses, decreased testosterone and increased androstenedione. Two novel homozygous mutations (W284X and c.124_127delTCTT) in HSD17B3 gene were identified. A systematic review found a total of 121 pedigrees/158 patients, with 78.5% (124/158) of patients assigned as females, 15.2% (24/158) from females to males, and 5.1% (8/158) raised as males. The most common mutation was c.277+4C>T (allele frequency: 25/72) for patients from Europe, and R80Q (allele frequency: 21/54) for patients from West Asia. The testicular histology showed normal infantile testicular tissue in 100% (9/9) infantile patients, normal quantity germ cells in 44.4% (8/18) prepubertal patients and 19.0% (4/21) pubertal and adult patients. We reported the first East Asian 17ß-hydroxysteroid dehydrogenase 3 deficiency cases. Additional literature reviews found founder effects among patients with different ethnic background and early orchiopexy may benefit fertility in patients assigned as males. These findings may significantly expand the clinical, ethnic and genetic spectrum of 17ß-hydroxysteroid dehydrogenase 3 deficiency.
[Mh] Termos MeSH primário: 17-Hidroxiesteroide Desidrogenases/deficiência
Transtornos 46, XY do Desenvolvimento Sexual/genética
[Mh] Termos MeSH secundário: Adolescente
Grupo com Ancestrais do Continente Asiático/genética
Criança
Feminino
Seres Humanos
Mutação
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
EC 1.1.- (17-Hydroxysteroid Dehydrogenases); EC 1.1.1.51 (3 (or 17)-beta-hydroxysteroid dehydrogenase)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171113
[Lr] Data última revisão:
171113
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170830
[St] Status:MEDLINE


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[PMID]:28791954
[Au] Autor:Bielinska E; Matiakowska K; Haus O
[Ad] Endereço:Katedra i Zaklad Genetyki Klinicznej, Collegium Medicum w Bydgoszczy, Uniwersytet Mikolaja Kopernika w Toruniu.
[Ti] Título:Heterogeneity of human WT1 gene.
[So] Source:Postepy Hig Med Dosw (Online);71(0):595-601, 2017 Jul 11.
[Is] ISSN:1732-2693
[Cp] País de publicação:Poland
[La] Idioma:eng
[Ab] Resumo:The WT1 gene, characterized by an extremely complex structure, is located on chromosome 11. It is involved in cell growth and differentiation, and has a strong impact on consecutive stages of the functioning of the body. The WT1 gene may undergo many different mutations, as well as may be overexpressed without a mutation. The molecular basis of diseases such as Wilms tumor, WAGR, Denys-Drash or Frasier syndromes are congenital WT1 mutations, while somatic mutations of this gene occur in acute and chronic myeloid leukemia, myelodysplastic syndrome and also in some other blood neoplasms, as acute lymphoblood leukemia. Increased expression of this gene without its mutation is observed in leukemias and solid tumors. The WT1 may function both as a tumor suppressor gene and as an oncogene. The diversity of WT1 changes causes many controversies, therefore investigations are still carried out to determine the function of this gene, its interaction with other molecules and its prognostic significance in various diseases.
[Mh] Termos MeSH primário: Heterogeneidade Genética
Mutação
Proteínas WT1/genética
[Mh] Termos MeSH secundário: Transtornos 46, XY do Desenvolvimento Sexual/metabolismo
Seres Humanos
Neoplasias/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (WT1 Proteins); 0 (WT1 protein, human)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170907
[Lr] Data última revisão:
170907
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170810
[St] Status:MEDLINE


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[PMID]:28584567
[Au] Autor:Alharbi KN; Khushaim AO; Alrasheed M; Akhtar M; Neimatallah M
[Ad] Endereço:Department of Radiology, King Saud Medical City, Riyadh, Saudi Arabia.
[Ti] Título:Radiological Findings in Persistent Müllerian Duct Syndrome: Case Report and Review of Literature.
[So] Source:J Radiol Case Rep;11(3):7-14, 2017 Mar.
[Is] ISSN:1943-0922
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:This case involved a 36-year-old adult male who presented with an unusual inguinal hernia in which the uterus and fallopian tubes were identified as contents of the inguinal hernia sac. These findings reflected a rare autosomal recessive developmental syndrome known as PMDS (persistent Müllerian duct syndrome). The diagnosis was established and confirmed via radiological-mainly MRI-investigation.
[Mh] Termos MeSH primário: Transtornos 46, XY do Desenvolvimento Sexual/diagnóstico por imagem
Imagem por Ressonância Magnética
[Mh] Termos MeSH secundário: Transtornos 46, XY do Desenvolvimento Sexual/cirurgia
Adulto
Diagnóstico Diferencial
Seres Humanos
Masculino
Tomografia Computadorizada por Raios X
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171113
[Lr] Data última revisão:
171113
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170607
[St] Status:MEDLINE
[do] DOI:10.3941/jrcr.v11i3.3027


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[PMID]:28576146
[Au] Autor:Park EJ; Lee SH; Jo YK; Hahn SE; Go DM; Lee SH; Lee BC; Jang G
[Ad] Endereço:Laboratory of Theriogenology & Biotechnology, College of Veterinary Medicine and the Research Institute of Veterinary Science, Seoul National University, Kwanak-ro 1, Daehak-Dong, Kwanak-Gu, Seoul, 08826, Republic of Korea.
[Ti] Título:Coincidence of Persistent Müllerian duct syndrome and testicular tumors in dogs.
[So] Source:BMC Vet Res;13(1):156, 2017 Jun 02.
[Is] ISSN:1746-6148
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Persistent Müllerian duct syndrome (PMDS), a rare form of male pseudohermaphroditism in dogs, is an abnormal sexual phenotype in males that is characterized by the existence of a hypoplastic oviduct, uterus, and cranial part of the vagina. Dogs suffering from PMDS are often accompanied by cryptorchidism. To date, it has been mainly found in the Miniature Schnauzer breed. CASE PRESENTATION: In this report, two cases of PMDS with a malignant testicular tumor originating from cryptorchidism in breeds other than the Miniature Schnauzer breed are described. The patients were a seven-year-old male Maltese dog and a 17-year-old male mixed-breed dog weighing 3.8 kg. They also exhibited an enlarged prostate with or without abscess and an elevated serum estradiol level and were surgically treated to remove the testicular tumor and Müllerian duct derivatives. CONCLUSIONS: It is recommended that PMDS should be differentially diagnosed by ultrasonography and that orchiectomy be performed at an early age in patients suspected to have cryptorchidism to prevent the ectopic testes from becoming tumorous.
[Mh] Termos MeSH primário: Transtornos 46, XY do Desenvolvimento Sexual/veterinária
Doenças do Cão
Neoplasias Testiculares/veterinária
[Mh] Termos MeSH secundário: Transtornos 46, XY do Desenvolvimento Sexual/complicações
Transtornos 46, XY do Desenvolvimento Sexual/diagnóstico por imagem
Animais
Criptorquidismo/complicações
Criptorquidismo/diagnóstico por imagem
Criptorquidismo/veterinária
Doenças do Cão/diagnóstico por imagem
Cães
Masculino
Neoplasias Testiculares/complicações
Neoplasias Testiculares/diagnóstico por imagem
Ultrassonografia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171025
[Lr] Data última revisão:
171025
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170604
[St] Status:MEDLINE
[do] DOI:10.1186/s12917-017-1068-6


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[PMID]:28538409
[Au] Autor:Fu R; Lu L; Jiang J; Nie M; Wang X; Lu Z
[Ad] Endereço:aDepartment of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Key Laboratory of Health and Family Planning Commission, Beijing, China bThe Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China.
[Ti] Título:A case report of pedigree of a homozygous mutation of the steroidogenic acute regulatory protein causing lipoid congenital adrenal hyperplasia.
[So] Source:Medicine (Baltimore);96(21):e6994, 2017 May.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:RATIONALE: Lipoid congenital adrenal hyperplasia (LCAH) is extremely rare, but is the most fatal form of congenital adrenal hyperplasia resulting from mutations in the steroidogenic acute regulatory protein (STAR) gene. LCAH arises from severe defects in the conversion of cholesterol to pregnenolone, the precursor of all steroids. PATIENT CONCERNS: A case was reported that an 11-month-old Chinese girl who presented with a sex development disorder and hyponatremia. The clinical and genetic tests were carried out to confirm the diagnosis. The genogram of this case was also explored and analyzed. The girl presented with hyponatremia, decreased cortisol level, elevated adrenocorticotropic hormone level and female vulva despite a 46, XY karyotype. Enlarged adrenal glands and testicular-like tissue in the bilateral inguinal regions were detected with abdominal ultrasound. She was suspected of having LCAH, and definitive diagnosis was made after Sanger sequencing detected a homozygous frameshift variant c.707_708delins CTT (p.Lys236Thrfs*47) on exon 6 of the STAR gene. DIAGNOSES: LCAH. INTERVENTIONS: She was prescribed hydrocortisone 10 to 12 mg/m2 and 9a- fludrocortisone 100 mg/d. OUTCOMES: Her skin hyperpigmentation and vomiting disappeared, and she had normal growth and development without adrenal crisis attacks. Her hormone and electrolyte levels remained normal, except for a persistently elevated ACTH level throughout 2 years of follow-up. At follow-up for 2 years, the patient is now 104.5 cm tall and weighs 23.3 kg at the age of 4 years old. Her plasma sodium and potassium concentration were normal. Her ACTH level is still elevated (1176 pg/mL). Her baseline sex hormone levels are testosterone <0.1 ng/dL and progesterone <0.08 ng/dL. The level of PRA (1.06 ng/mL per h) is within normal range. LESSONS: This mutation was in accordance with previously reported gene mutations. The patient's parents were nonconsanguineous; her parents, paternal grandfather, and maternal grandmother were all found to be carriers of a STAR gene mutation. This 46 XY disorders of sex development case presented with adrenal insufficiency and female phenotype initially. The diagnosis was complicated depending on the clinical hormone workup. LCAH was confirmed by genetic tests and genogram of the family.
[Mh] Termos MeSH primário: Transtornos 46, XY do Desenvolvimento Sexual/genética
Hiperplasia Suprarrenal Congênita/genética
Mutação da Fase de Leitura
Homozigoto
Fosfoproteínas/genética
[Mh] Termos MeSH secundário: Transtornos 46, XY do Desenvolvimento Sexual/diagnóstico
Transtornos 46, XY do Desenvolvimento Sexual/tratamento farmacológico
Hiperplasia Suprarrenal Congênita/diagnóstico
Hiperplasia Suprarrenal Congênita/tratamento farmacológico
Diagnóstico Diferencial
Feminino
Seres Humanos
Lactente
Linhagem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Phosphoproteins); 0 (steroidogenic acute regulatory protein)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170629
[Lr] Data última revisão:
170629
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170525
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000006994


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[PMID]:28207417
[Au] Autor:Teasdale SL; Morton A
[Ti] Título:Adrenarche unmasks compound heterozygous 3ß-hydroxysteroid dehydrogenase deficiency: c.244G>A (p.Ala82Thr) and the novel 931C>T (p.Gln311*) variant in a non-salt wasting, severely undervirilised 46XY.
[So] Source:J Pediatr Endocrinol Metab;30(3):355-360, 2017 Mar 01.
[Is] ISSN:2191-0251
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:3ß-Hydroxysteroid dehydrogenase type II deficiency (3ßHSD2) congenital adrenal hyperplasia is a rare cause of ambiguous genitalia, resulting in abnormal virilisation in both 46XY and 46XX. We describe a case of 46XY ambiguous genitalia that was misdiagnosed as androgen insensitivity syndrome. The correct diagnosis was made after adrenarche. Genotyping demonstrated compound heterozygosity in two alleles, the previously described c.244G>A (p.Ala82Thr), and a novel 931C>T(p.Gln311*) variant. We suggest that adrenarche unmasked the condition by driving cortisol production to rates that caused the mutant 3bHSD2 enzyme to become rate limiting for cortisol production. This case illustrates how markedly different the effects of this condition may be on androgen production compared with glucocorticoid and mineralocorticoid production. It also demonstrates how current guidelines based on urinary steroids and cortisol sufficiency may not arrive at the correct diagnosis, and underlines the importance of gene testing in the work-up of disorders of sexual differentiation.
[Mh] Termos MeSH primário: 17-Hidroxiesteroide Desidrogenases/genética
Transtornos 46, XY do Desenvolvimento Sexual/genética
Hiperplasia Suprarrenal Congênita/genética
Adrenarca/genética
Transtornos do Desenvolvimento Sexual/genética
Mutação/genética
Virilismo/etiologia
[Mh] Termos MeSH secundário: Transtornos 46, XY do Desenvolvimento Sexual/complicações
Hiperplasia Suprarrenal Congênita/complicações
Biomarcadores/metabolismo
Criança
Transtornos do Desenvolvimento Sexual/metabolismo
Transtornos do Desenvolvimento Sexual/patologia
Feminino
Testes Genéticos
Seres Humanos
Hidrocortisona/metabolismo
Prognóstico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); EC 1.1.- (17-Hydroxysteroid Dehydrogenases); EC 1.1.1.51 (3 (or 17)-beta-hydroxysteroid dehydrogenase); WI4X0X7BPJ (Hydrocortisone)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170822
[Lr] Data última revisão:
170822
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170217
[St] Status:MEDLINE


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[PMID]:28005277
[Au] Autor:Bennecke E; Thyen U; Grüters A; Lux A; Köhler B
[Ad] Endereço:Division of Endocrinology and Diabetology, Department of Paediatrics, Charité, University Medicine, Berlin, Germany.
[Ti] Título:Health-related quality of life and psychological well-being in adults with differences/disorders of sex development.
[So] Source:Clin Endocrinol (Oxf);86(4):634-643, 2017 Apr.
[Is] ISSN:1365-2265
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Rare congenital conditions with incongruence of chromosomal, gonadal and phenotypic sex have been classified as differences/disorders of sex development (DSD). Included in DSD are conditions with diverse genetic aetiology, varying levels of prenatal androgen effects, phenotypes and, subsequently, different medical treatments. Quality of life (QoL) and psychological well-being are indicators of successful psychosocial adaptation to the conditions. We sought to investigate the HRQoL and psychological well-being in this population. DESIGN: This multicentre clinical evaluation study was part of a German network related to DSD funded by the German Ministry of Science and Education (BMBF 2003 to 2007). METHODS: To assess health-related quality of life (HRQoL), we used the Short Form Health Survey (SF-36), and for psychological well-being, the Brief Symptom Inventory (BSI). Participants were classified into five groups: females with CAH, females with XY DSD conditions where there is a partial androgen effect (partial androgen insensitivity, mixed/partial gonadal dysgenesis, disorders of androgen biosynthesis), females with XY DSD without androgen effect (complete androgen insensitivity, complete gonadal dysgenesis), males with XY DSD, and individuals with DSD conditions and other gender. RESULTS: Participants included 110 adults with DSD (age range 17-62). We found a trend of lowered mental HRQoL and significant higher physical HRQoL for participants as compared to the norm. The high physical HRQoL especially applied to females with androgen effect and XY karyotype. Participants reported significant higher psychological distress compared to the norm. Forty-seven participants (42·7%) reported distress in a clinically relevant range on the BSI. CONCLUSIONS: Although we did not find significant impairments in overall HRQoL, participants reported significant impaired psychological well-being. Specialized interdisciplinary care should focus in particular on psychological issues to ensure good overall health and well-being.
[Mh] Termos MeSH primário: Transtornos do Desenvolvimento Sexual/psicologia
Qualidade de Vida/psicologia
[Mh] Termos MeSH secundário: Transtornos 46, XY do Desenvolvimento Sexual
Adolescente
Adulto
Idoso
Androgênios
Feminino
Alemanha
Seres Humanos
Masculino
Meia-Idade
Estresse Psicológico/etiologia
Inquéritos e Questionários
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; MULTICENTER STUDY
[Nm] Nome de substância:
0 (Androgens)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171010
[Lr] Data última revisão:
171010
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161223
[St] Status:MEDLINE
[do] DOI:10.1111/cen.13296


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[PMID]:27849622
[Au] Autor:Ittiwut C; Pratuangdejkul J; Supornsilchai V; Muensri S; Hiranras Y; Sahakitrungruang T; Watcharasindhu S; Suphapeetiporn K; Shotelersuk V
[Ti] Título:Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development.
[So] Source:J Pediatr Endocrinol Metab;30(1):19-26, 2017 Jan 01.
[Is] ISSN:2191-0251
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Abnormalities of dihydrotestosterone conversion [5α-reductase deficiency: online Mendelian inheritance in man (OMIM) 607306] or actions of androgens [partial androgen insensitivity syndrome (PAIS): OMIM 312300] during the 8th-12th weeks of gestation cause varying degrees of undervirilized external genitalia in 46, XY disorders of sex development (DSD) with increased testosterone production. The objective of the study was to determine clinical and genetic characteristics of Thai patients with 46, XY DSD. METHODS: A cross-sectional study was conducted in 46, XY DSD with increased testosterone production (n=43) evaluated by a human chorionic gonadotropin (hCG) stimulation test or clinical features consistent with 5α-reductase deficiency or PAIS. PCR sequencing of the entire coding regions of the SRD5A2 and AR genes was performed. Molecular modeling analysis of the androgen receptor-ligand-binding domain (AR-LBD) of a novel mutation was constructed. RESULTS: Mutations were found in seven patients (16.3%): five (11.6%) and two (4.7%) patients had mutations in SRD5A2 and AR, respectively. Two novel mutations, SRD5A2 c.383A>G (p.Y128C) and AR c.2176C>T (p.R726C), were identified. Dimensional structural analysis of the novel mutated AR (p.R726C) revealed that it affected the co-activator binding [binding function-3 (BF-3)], not the testosterone binding site. Short phallus length was associated with 5α-reductase deficiency. CONCLUSIONS: Around 16.3% of our patients with 46, XY DSD had 5α-reductase deficiency or PAIS. Two novel mutations of SRD5A2 and AR were identified. The novel mutated AR (p.R726C) might affect the co-activator binding (BF-3), not the testosterone binding site.
[Mh] Termos MeSH primário: 3-Oxo-5-alfa-Esteroide 4-Desidrogenase/genética
Transtornos 46, XY do Desenvolvimento Sexual/genética
Transtornos 46, XY do Desenvolvimento Sexual/patologia
Proteínas de Membrana/genética
Mutação/genética
Receptores Androgênicos/genética
[Mh] Termos MeSH secundário: Transtornos 46, XY do Desenvolvimento Sexual/metabolismo
Sequência de Aminoácidos
Androgênios/metabolismo
Biomarcadores/metabolismo
Criança
Pré-Escolar
Estudos Transversais
Di-Hidrotestosterona/metabolismo
Feminino
Seguimentos
Seres Humanos
Lactente
Masculino
Prognóstico
Conformação Proteica
Receptores Androgênicos/química
Homologia de Sequência de Aminoácidos
Testosterona/metabolismo
Tailândia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (AR protein, human); 0 (Androgens); 0 (Biomarkers); 0 (Membrane Proteins); 0 (Receptors, Androgen); 08J2K08A3Y (Dihydrotestosterone); 3XMK78S47O (Testosterone); EC 1.3.99.5 (3-Oxo-5-alpha-Steroid 4-Dehydrogenase); EC 1.3.99.5 (SRD5A2 protein, human)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170508
[Lr] Data última revisão:
170508
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161117
[St] Status:MEDLINE


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[PMID]:27754965
[Au] Autor:Ganie Y; Aldous C; Balakrishna Y; Wiersma R
[Ti] Título:Disorders of sex development in children in KwaZulu-Natal Durban South Africa: 20-year experience in a tertiary centre.
[So] Source:J Pediatr Endocrinol Metab;30(1):11-18, 2017 Jan 01.
[Is] ISSN:2191-0251
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: The objective of the study was to describe the prevalence, clinical characteristics and aetiological diagnosis in children with disorders of sex development (DSDs) presenting to a tertiary referral centre. METHODS: This is a retrospective review of all cases of DSD referred to the Paediatric Endocrine Unit in Inkosi Albert Luthuli Central Hospital (IALCH) from January 1995 to December 2014. RESULTS: A total of 416 children (15.1%; CI: 13.8%-16.5%) were diagnosed with DSD. The aetiological diagnosis based on the current classification [Lawson Wilkins Paediatric Endocrine Society (LWPES) and European Society for Paediatric Endocrinology (ESPE)] was sex chromosome DSD in 9.5% (n=33), 46 XX DSD in 33% (n=114) and 46 XY DSD in 57.5% (n=199). The most common diagnoses in descending order were a disorder in androgen synthesis and action (not classified) in 53% (n=182), ovotesticular DSD in 22% (n=75) and congenital adrenal hyperplasia (CAH) in 10% (n=36). Overall the median age of presentation was 10 months (IQR: 1 month-4.5 years). There was a significant relationship (p<0.001) between the age of presentation and aetiological diagnosis. The majority (97%) of African patients had a diagnosis of 46 XX DSD. Prematurity was present in 47% (n=83) of children with 46 XY DSD (p<0.001). CONCLUSIONS: DSD is not an uncommon diagnosis in African patients in sub-Saharan Africa. The most common aetiological diagnosis is 46 XY DSD in androgen synthesis and action, followed by ovotesticular DSD. CAH is only the third most common disorder.
[Mh] Termos MeSH primário: Transtornos 46, XX do Desenvolvimento Sexual/etiologia
Transtornos 46, XY do Desenvolvimento Sexual/etiologia
Transtornos do Desenvolvimento Sexual/complicações
[Mh] Termos MeSH secundário: Transtornos 46, XX do Desenvolvimento Sexual/patologia
Transtornos 46, XY do Desenvolvimento Sexual/patologia
Criança
Pré-Escolar
Transtornos do Desenvolvimento Sexual/genética
Feminino
Seguimentos
Seres Humanos
Lactente
Recém-Nascido
Masculino
Prognóstico
Estudos Retrospectivos
África do Sul
Centros de Atenção Terciária
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170508
[Lr] Data última revisão:
170508
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161019
[St] Status:MEDLINE


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Mendonça, Berenice B
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[PMID]:27163392
[Au] Autor:Mendonca BB; Gomes NL; Costa EM; Inacio M; Martin RM; Nishi MY; Carvalho FM; Tibor FD; Domenice S
[Ad] Endereço:Developmental Endocrinology Unit, Hormone and Molecular Genetics Laboratory (LIM/42), Endocrinology Division, Internal Medicine Department, Medical School, University of São Paulo, Brazil. Electronic address: beremen@usp.br.
[Ti] Título:46,XY disorder of sex development (DSD) due to 17ß-hydroxysteroid dehydrogenase type 3 deficiency.
[So] Source:J Steroid Biochem Mol Biol;165(Pt A):79-85, 2017 Jan.
[Is] ISSN:1879-1220
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:17ß-hydroxysteroid dehydrogenase 3 deficiency consists of a defect in the last phase of steroidogenesis, in which androstenedione is converted into testosterone and estrone into estradiol. External genitalia range from female-like to atypical genitalia and most affected males are raised as females. Virilization in subjects with 17ß-HSD3 deficiency occurs at the time of puberty and several of them change to male social sex. In male social sex patients, testes can be safely maintained, as long as they are positioned inside the scrotum The phenotype of 46,XY DSD due to 17ß-HSD3 deficiency is extremely variable and clinically indistinguishable from other causes of 46,XY DSD such as partial androgen insensitivity syndrome and 5α-reductase 2 deficiency. Laboratory diagnosis is based on a low testosterone/androstenedione ratio due to high serum levels of androstenedione and low levels of testosterone. The disorder is caused by a homozygous or compound heterozygous mutations in the HSD17B3 gene that encodes the 17ß-HSD3 isoenzyme leading to an impairment of the conversion of 17-keto into 17-hydroxysteroids. Molecular genetic testing confirms the diagnosis and provides the orientation for genetic counseling. Our proposal in this article is to review the previously reported cases of 17ß-HSD3 deficiency adding our own cases.
[Mh] Termos MeSH primário: 17-Hidroxiesteroide Desidrogenases/deficiência
Cromossomos Humanos X/genética
Cromossomos Humanos Y/genética
Transtornos do Desenvolvimento Sexual/genética
[Mh] Termos MeSH secundário: 17-Hidroxiesteroide Desidrogenases/genética
3-Oxo-5-alfa-Esteroide 4-Desidrogenase/deficiência
3-Oxo-5-alfa-Esteroide 4-Desidrogenase/genética
Transtornos 46, XY do Desenvolvimento Sexual/genética
Adolescente
Adulto
Síndrome de Resistência a Andrógenos/genética
Criança
Pré-Escolar
Éxons
Feminino
Testes Genéticos
Genótipo
Homozigoto
Seres Humanos
Hipospadia/genética
Masculino
Mutação
Fenótipo
Estudos Retrospectivos
Erros Inatos do Metabolismo de Esteroides/genética
Virilismo/genética
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
EC 1.1.- (17-Hydroxysteroid Dehydrogenases); EC 1.1.- (17beta-hydroxysteroid dehydrogenase type 3); EC 1.1.1.51 (3 (or 17)-beta-hydroxysteroid dehydrogenase); EC 1.3.99.5 (3-Oxo-5-alpha-Steroid 4-Dehydrogenase)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170623
[Lr] Data última revisão:
170623
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160511
[St] Status:MEDLINE



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