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[PMID]:28351396
[Au] Autor:Mao Y; Chen S; Wang R; Wang X; Qin D; Tang Y
[Ad] Endereço:Department of Pediatric Surgery of Children's Medical Center, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Chengdu, China.
[Ti] Título:Evaluation and treatment for ovotesticular disorder of sex development (OT-DSD) - experience based on a Chinese series.
[So] Source:BMC Urol;17(1):21, 2017 Mar 28.
[Is] ISSN:1471-2490
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: The aim of this study is to review and present the clinical features and process of evaluation and treatment for OT-DSD in a single center in recent years in China. METHODS: Sixteen patients with OT-DSD during the past 4 years underwent the evaluation and treatment in a single center. The clinical characteristics and outcomes of surgery were analyzed. RESULTS: The surgical age ranged from 17 months to 66 months with a mean age of 20 months, and the mean follow-up was 30 months (4 months to 56 months). The presentation in 11 patients was ambiguous genitalia, and the rest 5 patients were suspected to have DSD in preoperative examination before hypospadias repair. The karyotypes were 46, XX in 11 patients, 46, XX/46, XY in 3, 46, XX/47, XXY in 1, and 46, XY in 1. Initial reared sex was male in 14 patients, female in 1, and undetermined in 1. After surgery, genders were reassigned in 3 patients, while 15 patients were raised as male with testicular tissue left. Only 1 patient with ovarian tissue left was raised as female. Repair was completed in 11 males and 1 female, and stage I urethroplasty was done in 4 males. No further surgery to remove the gonads was needed for inconsonance of gender assignment. No gonadal tumors were detected. CONCLUSIONS: OT-DSD is a rare and complex deformity with few systematic reports in China. It's important to establish a regular algorithm for evaluation and treatment of OT-DSD.
[Mh] Termos MeSH primário: Transtornos Ovotesticulares do Desenvolvimento Sexual
[Mh] Termos MeSH secundário: Pré-Escolar
China
Transtornos do Desenvolvimento Sexual/genética
Transtornos do Desenvolvimento Sexual/cirurgia
Feminino
Seres Humanos
Hipospadia/genética
Hipospadia/cirurgia
Lactente
Cariótipo
Masculino
Transtornos Ovotesticulares do Desenvolvimento Sexual/diagnóstico
Transtornos Ovotesticulares do Desenvolvimento Sexual/genética
Transtornos Ovotesticulares do Desenvolvimento Sexual/cirurgia
Consentimento dos Pais/ética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170821
[Lr] Data última revisão:
170821
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170330
[St] Status:MEDLINE
[do] DOI:10.1186/s12894-017-0212-8


  2 / 122 MEDLINE  
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[PMID]:28253506
[Au] Autor:Greeley SA; Littlejohn E; Husain AN; Waggoner D; Gundeti M; Rosenfield RL
[Ti] Título:The Effect of the Testis on the Ovary: Structure-Function Relationships in a Neonate with a Unilateral Ovotestis (Ovotesticular Disorder of Sex Development)
.
[So] Source:Horm Res Paediatr;87(3):205-212, 2017.
[Is] ISSN:1663-2826
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:AIMS: To evaluate gonadal function in a newborn with suspected ovotesticular disorder of sex development (DSD). METHODS: Gonadal function was evaluated at baseline and after gonadotropin-releasing hormone agonist (GnRHag) stimulation testing. RESULTS: A full-term 46,XX neonate with genital ambiguity produced serum testosterone and anti-Müllerian hormone (AMH) levels appropriate for males within days, while serum estradiol remained prepubertal, both spontaneously and in response to GnRHag stimulation testing. Ovotesticular DSD was diagnosed at laparoscopy: the left gonad was an ovotestis and the right gonad an ovary arrested at the primordial follicle stage of development. Mosaicism for an isochromosome of the Y short arm in 6-18% of gonadal cells was demonstrated. After ovotestis removal at 3 weeks of age, serum AMH became low within a month, but the elevated testosterone was slow to resolve, apparently from ovarian androgenic hyperfunction coincident with ovarian estrogenic hyperfunction and an adult degree of ovarian development. Ovarian morphology and function gradually normalized as neonatal minipuberty waned. CONCLUSIONS: In a neonate with genital ambiguity due to ovotesticular DSD, testicular AMH and testosterone production respectively appear to account for the initial arrest of ovarian development and subsequent rapid hyperfunction of the contralateral ovary after ovotestis removal.
.
[Mh] Termos MeSH primário: Hormônio Antimülleriano/sangue
Estradiol/sangue
Transtornos Ovotesticulares do Desenvolvimento Sexual/sangue
Transtornos Ovotesticulares do Desenvolvimento Sexual/cirurgia
Testosterona/sangue
[Mh] Termos MeSH secundário: Adulto
Cromossomos Humanos Y/genética
Feminino
Seres Humanos
Recém-Nascido
Masculino
Mosaicismo
Ovário/metabolismo
Ovário/cirurgia
Transtornos Ovotesticulares do Desenvolvimento Sexual/genética
Testículo/metabolismo
Testículo/cirurgia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
3XMK78S47O (Testosterone); 4TI98Z838E (Estradiol); 80497-65-0 (Anti-Mullerian Hormone)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170522
[Lr] Data última revisão:
170522
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170303
[St] Status:MEDLINE
[do] DOI:10.1159/000455142


  3 / 122 MEDLINE  
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[PMID]:27855412
[Au] Autor:Swartz JM; Ciarlo R; Guo MH; Abrha A; Weaver B; Diamond DA; Chan YM; Hirschhorn JN
[Ad] Endereço:Division of Endocrinology, Boston Children's Hospital, Boston, MA, USA.
[Ti] Título:A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant.
[So] Source:Horm Res Paediatr;87(3):191-195, 2017.
[Is] ISSN:1663-2826
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: A variant in steroidogenic factor-1 (SF-1, encoded by the gene NR5A1), p.Arg92Trp, has recently been reported in multiple families with 46,XX ovotesticular or testicular disorders of sex development (DSD). This amino acid change impacts the DNA-binding domain and perturbs gonadal differentiation pathways. METHODS: Whole-exome sequencing was performed on a 46,XX subject with ovotesticular DSD. RESULTS: Exome results identified a heterozygous NR5A1 variant, p.Arg92Gln, in the 46,XX ovotesticular DSD proband. This arginine-to-glutamine change has been previously reported in the homozygous state in a 46,XY patient with gonadal and adrenal dysgenesis, though 46,XY and 46,XX heterozygous carriers of this variant have not been previously reported to have any clinical phenotype. CONCLUSIONS: The NR5A1 p.Arg92Gln variant, which has thus far only been seen in a family with 46,XY DSD, most likely contributes to the ovotesticular DSD in this case. In light of the recent reports of unrelated 46,XX subjects with testicular or ovotesticular DSD with the NR5A1 variant p.Arg92Trp, it appears that other mutations in the DNA binding domain have the potential to impact the factors determining testicular and ovarian differentiation. This case demonstrates the variability of phenotypes with the same genotype and broadens our understanding of the role of SF-1 in gonadal differentiation.
[Mh] Termos MeSH primário: Transtornos 46, XX do Desenvolvimento Sexual/genética
Mutação de Sentido Incorreto
Transtornos Ovotesticulares do Desenvolvimento Sexual/genética
Fator Esteroidogênico 1/genética
[Mh] Termos MeSH secundário: Transtornos 46, XX do Desenvolvimento Sexual/patologia
Substituição de Aminoácidos
Pré-Escolar
Feminino
Seres Humanos
Transtornos Ovotesticulares do Desenvolvimento Sexual/patologia
Domínios Proteicos
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (NR5A1 protein, human); 0 (Steroidogenic Factor 1)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170522
[Lr] Data última revisão:
170522
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161118
[St] Status:MEDLINE
[do] DOI:10.1159/000452888


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[PMID]:27941186
[Au] Autor:Makhija D; Shah H; Tiwari C; Jayaswal S; Desale J
[Ad] Endereço:Dept of Paediatric Surgery, TNMC & BYL Nair Hospital, Mumbai Central, Mumbai, Maharashtra. India, E-Mail ID: deepee.sweety@gmail.com.
[Ti] Título:Mixed Gonadal Dysgenesis with an unusual "inverted" Y chromosome.
[So] Source:Dev Period Med;20(3):178-180, 2016.
[Is] ISSN:1428-345X
[Cp] País de publicação:Poland
[La] Idioma:eng
[Ab] Resumo:Mixed gonadal dysgenesis is a rare disorder of sex development associated with sex chromosome aneuploidy and mosaicism of the Y chromosome. It is characterized by a unilateral non-palpable (usually intra-abdominal) testis, a contralateral streak gonad and persistent mullerian structures. The clinical presentation can vary from a typical male to female phenotype including all degrees of cryptorchidism, labial fusion, clitoromegaly, epispadias and hypospadias. It is the second most common cause of ambiguous genitalia in the neonatal period. We report a case of Mixed Gonadal Dysgenesis with an inverted Y chromosome.
[Mh] Termos MeSH primário: Cromossomos Humanos Y/genética
Disgenesia Gonadal Mista/genética
Transtornos Ovotesticulares do Desenvolvimento Sexual/genética
[Mh] Termos MeSH secundário: Pré-Escolar
Seres Humanos
Masculino
Aberrações dos Cromossomos Sexuais
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170616
[Lr] Data última revisão:
170616
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161213
[St] Status:MEDLINE


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[PMID]:27087521
[Au] Autor:Simsek E; Binay Ç; Demiral M; Tokar B; Kabukçuoglu S; Üstün M
[Ad] Endereço:Osmangazi University Faculty of Medicine, Departments of Pediatric Endocrinology, Eskisehir, Turkey, Phone: +90505 496 23 02 E-mail: enversimsek06@hotmail.com.
[Ti] Título:Gonadoblastoma and Papillary Tubal Hyperplasia in Ovotesticular Disorder of Sexual Development.
[So] Source:J Clin Res Pediatr Endocrinol;8(3):351-5, 2016 Sep 01.
[Is] ISSN:1308-5735
[Cp] País de publicação:Turkey
[La] Idioma:eng
[Ab] Resumo:Ovotesticular disorder of sexual development (DSD), formerly known as true hermaphroditism, is a rare form of DSD in which both testicular and ovarian tissues are present in the same individual either in a single gonad (ovotestis) or in opposite gonads with a testis and an ovary on each side. The diagnosis of ovotesticular DSD is based solely on the presence of ovarian and testicular tissue in the gonad and not on the characteristics of the internal and external genitalia, even if ambiguous. Herein, we report two patients with ovotesticular DSD-one presenting with ambiguous genitalia on the third day after birth and the other with short stature and primary amenorrhea in adolescence. Clinical and histopathological investigation revealed a sex-determining region on the Y chromosome (SRY)-positive 46,XX karyotype and bilateral ovotestes in case 1 and a 46,XY karyotype with hypergonadotropic hypogonadism and a streak gonad in one ovotestis with dysgerminoma, gonadoblastoma, and papillary tubal hyperplasia in the contralateral ovotestis in case 2. Laparoscopic examination and gonadal biopsy for histopathological diagnosis remain the cornerstones for a diagnosis of ovotesticular DSD. Moreover, SRY positivity in a 46,XX patient, a 46,XY karyotype, an intra-abdominal gonad, and the age of patient at the time of diagnosis are predictive risk factors for the development of gonadoblastoma and/or dysgerminoma in ovotesticular DSD.
[Mh] Termos MeSH primário: Transtornos do Desenvolvimento Sexual/diagnóstico
Tubas Uterinas/patologia
Gonadoblastoma/diagnóstico
Neoplasias Ovarianas/diagnóstico
Transtornos Ovotesticulares do Desenvolvimento Sexual/diagnóstico
[Mh] Termos MeSH secundário: Adolescente
Transtornos do Desenvolvimento Sexual/complicações
Transtornos do Desenvolvimento Sexual/genética
Feminino
Gonadoblastoma/complicações
Seres Humanos
Hiperplasia
Recém-Nascido
Cariótipo
Masculino
Neoplasias Ovarianas/complicações
Transtornos Ovotesticulares do Desenvolvimento Sexual/complicações
Transtornos Ovotesticulares do Desenvolvimento Sexual/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170418
[Lr] Data última revisão:
170418
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160419
[St] Status:MEDLINE
[do] DOI:10.4274/jcrpe.2705


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[PMID]:26194606
[Au] Autor:Umemura Y; Miyamoto R; Hashimoto R; Kinoshita K; Omotehara T; Nagahara D; Hirano T; Kubota N; Minami K; Yanai S; Masuda N; Yuasa H; Mantani Y; Matsuo E; Yokoyama T; Kitagawa H; Hoshi N
[Ad] Endereço:Laboratory of Molecular Morphology, Department of Animal Science, Graduate School of Agricultural Science, Kobe University, Kobe, Hyogo 657-8501, Japan.
[Ti] Título:Ontogenic and morphological study of gonadal formation in genetically-modified sex reversal XY(POS) mice.
[So] Source:J Vet Med Sci;77(12):1587-98, 2016 Jan.
[Is] ISSN:1347-7439
[Cp] País de publicação:Japan
[La] Idioma:eng
[Ab] Resumo:Mammalian sexual fate is determined by the presence or absence of sex determining region of the Y chromosome (Sry) in the "bipotential" gonads. Recent studies have demonstrated that both male and female sexual development are induced by distinct and active genetic pathways. Breeding the Y chromosome from Mus m. domesticus poschiavinus (POS) strains into C57BL/6J (B6J) mice (B6J-XY(POS)) has been shown to induce sex reversal (75%: bilateral ovary, 25%: true hermaphrodites). However, our B6N-XY(POS) mice, which were generated by backcrossing of B6J-XY(POS) on an inbred B6N-XX, develop as males (36%: bilateral testis with fertility as well as bilateral ovary (34%), and the remainder develop as true hermaphrodites. Here, we investigated in detail the expressions of essential sex-related genes and histological features in B6N-XY(POS) mice from the fetal period to adulthood. The onsets of both Sry and SRY-box 9 (Sox9) expressions as determined spatiotemporally by whole-mount immunohistochemistry in the B6N-XY(POS) gonads occurred 2-3 tail somites later than those in B6N-XY(B6) gonads, but earlier than those in B6J-XY(POS), respectively. It is possible that such a small difference in timing of the Sry expression underlies testicular development in our B6N-XY(POS). Our study is the first to histologically show the expression and ectopic localization of a female-related gene in the XY(POS) testes and a male-related gene in the XY(POS) ovaries. The results from these and previous experiments indicate that the interplay between genome variants, epigenetics and developmental gene regulation is crucial for testis development.
[Mh] Termos MeSH primário: Ovário/crescimento & desenvolvimento
Transtornos Ovotesticulares do Desenvolvimento Sexual/genética
Processos de Determinação Sexual/fisiologia
Testículo/crescimento & desenvolvimento
Cromossomo X/genética
Cromossomo Y/genética
[Mh] Termos MeSH secundário: Alelos
Animais
Cromossomos de Mamíferos/genética
Feminino
Regulação da Expressão Gênica no Desenvolvimento/fisiologia
Masculino
Camundongos
Camundongos Endogâmicos
Camundongos Transgênicos
Processos de Determinação Sexual/genética
Proteína da Região Y Determinante do Sexo/genética
Proteína da Região Y Determinante do Sexo/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Sex-Determining Region Y Protein); 0 (Sry protein, mouse)
[Em] Mês de entrada:1610
[Cu] Atualização por classe:161230
[Lr] Data última revisão:
161230
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150722
[St] Status:MEDLINE
[do] DOI:10.1292/jvms.15-0292


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[PMID]:26665682
[Au] Autor:Wang JQ; Wang DW; Liu C; Yang H; Xu JX
[Ti] Título:[Diagnosis and treatment of ovotesticular disorder of sex development: A report of 2 cases].
[So] Source:Zhonghua Nan Ke Xue;21(10):917-20, 2015 Oct.
[Is] ISSN:1009-3591
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: To investigate the characteristics, diagnosis, and treatment of ovotesticular disorder of sex development (OT-DSD). METHODS: We retrospectively analyzed 2 cases of OT-DSD treated in our hospital. The patients were 19 and 15 years old, respectively, and both received systematic physical examination and examinations of the karyotype, sex hormone, adrenocorticotropic hormone (ACTH), color Doppler ultrasonography, urethrocystoscopy, and human chorionic gonadotropin (HCG) test. Under the laparoscope, we performed surgical gonad exploration, gonadectomy, and vulvar orthopedics. Intraoperative exploration and pathology confirmed true hermaphroditism in both cases, with sex selection as female. One underwent laparoscopic resection of the ovotestis, and the other removal of the testis with the ovarian tissue reserved. RESULTS: The patients were followed up for 12 months postoperatively, which found no abnormality in either the vulvas or the genital glands. CONCLUSION: Surgical exploration of the gonad is the only method for the diagnosis of OT-DSD and sex selection is the key to treatment. Laparoscopic surgical exploration of the gonad and vulvar orthopedics are the first treatment options.
[Mh] Termos MeSH primário: Transtornos Ovotesticulares do Desenvolvimento Sexual/diagnóstico
Transtornos Ovotesticulares do Desenvolvimento Sexual/cirurgia
[Mh] Termos MeSH secundário: Adolescente
Gonadotropina Coriônica
Feminino
Hormônios Esteroides Gonadais
Seres Humanos
Cariótipo
Laparoscopia
Masculino
Ovário
Estudos Retrospectivos
Testículo/cirurgia
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; ENGLISH ABSTRACT; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Chorionic Gonadotropin); 0 (Gonadal Steroid Hormones)
[Em] Mês de entrada:1603
[Cu] Atualização por classe:151211
[Lr] Data última revisão:
151211
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151216
[St] Status:MEDLINE


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[PMID]:26423656
[Au] Autor:Marcinkowska-Swojak M; Szczerbal I; Pausch H; Nowacka-Woszuk J; Flisikowski K; Dzimira S; Nizanski W; Payan-Carreira R; Fries R; Kozlowski P; Switonski M
[Ad] Endereço:European Centre of Bioinformatics and Genomics, Institute of Bioorganic Chemistry, Polish Academy of Sciences, Poznan, Poland.
[Ti] Título:Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative).
[So] Source:Sci Rep;5:14696, 2015 Oct 01.
[Is] ISSN:2045-2322
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Although the disorder of sex development in dogs with female karyotype (XX DSD) is quite common, its molecular basis is still unclear. Among mutations underlying XX DSD in mammals are duplication of a long sequence upstream of the SOX9 gene (RevSex) and duplication of the SOX9 gene (also observed in dogs). We performed a comparative analysis of 16 XX DSD and 30 control female dogs, using FISH and MLPA approaches. Our study was focused on a region harboring SOX9 and a region orthologous to the human RevSex (CanRevSex), which was located by in silico analysis downstream of SOX9. Two highly polymorphic copy number variable regions (CNVRs): CNVR1 upstream of SOX9 and CNVR2 encompassing CanRevSex were identified. Although none of the detected copy number variants were specific to either affected or control animals, we observed that the average number of copies in CNVR1 was higher in XX DSD. No copy variation of SOX9 was observed. Our extensive studies have excluded duplication of SOX9 as the common cause of XX DSD in analyzed samples. However, it remains possible that the causative mutation is hidden in highly polymorphic CNVR1.
[Mh] Termos MeSH primário: Doenças do Cão/genética
Transtornos Ovotesticulares do Desenvolvimento Sexual/veterinária
Fatores de Transcrição SOX9/genética
[Mh] Termos MeSH secundário: Animais
Células Cultivadas
Variações do Número de Cópias de DNA
Cães
Feminino
Duplicação Gênica
Estudos de Associação Genética
Transtornos Ovotesticulares do Desenvolvimento Sexual/genética
Polimorfismo Genético
Cromossomo X/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (SOX9 Transcription Factor)
[Em] Mês de entrada:1608
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151002
[St] Status:MEDLINE
[do] DOI:10.1038/srep14696


  9 / 122 MEDLINE  
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[PMID]:26165913
[Au] Autor:Selver Eklioglu B; Atabek ME; Akyurek N; Ari Yuca S; Piskin M
[Ad] Endereço:Division of Pediatric Endocrinology and Diabetes, Necmettin Erbakan University Faculty of medicine, Konya, Turkey. Electronic address: berayselver@hotmail.com.
[Ti] Título:The 46XX Ovotesticular Disorders of Sexual Development with Dismorphic Features.
[So] Source:J Pediatr Adolesc Gynecol;28(6):e157-9, 2015 Dec.
[Is] ISSN:1873-4332
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Ovotesticular disorders of sexual development (OT-DSD) represent a rare sex development disorder characterized by the presence of both ovarian and testicular tissues in the same or the contralateral gonad. CASE: We present the case of a 14-year-old female patient with signs of virilization at a pubertal age and with dysmorphic features, diagnosed as 46,XX OT-DSD. CONCLUSION: We want to point out that patients with 46 XX OT-DSD may present with virilization at puberty and may be accompanied by dysmorphic features.
[Mh] Termos MeSH primário: Transtornos Dismórficos Corporais
Transtornos Ovotesticulares do Desenvolvimento Sexual/diagnóstico
Desenvolvimento Sexual
Virilismo
[Mh] Termos MeSH secundário: Adolescente
Feminino
Seres Humanos
Puberdade
Maturidade Sexual
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1605
[Cu] Atualização por classe:151030
[Lr] Data última revisão:
151030
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150714
[St] Status:MEDLINE


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[PMID]:25786559
[Au] Autor:Khadilkar KS; Budyal SR; Kasaliwal R; Sathe PA; Kandalkar B; Sanghvi BV; Parelkar SV; Lila AR; Bandgar T; Shah NS
[Ti] Título:OVOTESTICULAR DISORDER OF SEX DEVELOPMENT: A SINGLE-CENTER EXPERIENCE.
[So] Source:Endocr Pract;21(7):770-6, 2015 Jul.
[Is] ISSN:1530-891X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Ovotesticular disorder of sex development (OT DSD) is a rare disorder of sex development characterized by the presence in the same individual of both histologically proven testis and ovary. There are scant data from the Indian subcontinent regarding this disorder. The aim of this study was to describe the clinical, biochemical, imaging, cytogenetic, surgical, and histopathologic findings and outcomes of patients with OT DSD from Western India. METHODS: The records of patients referred to our center for disorders of sex development between 2005 and 2013 were reviewed, and 7 patients were found to have histologically proven OT DSD. RESULTS: The median age at presentation was 8 years (range, 2 months to 25 years). Clinical presentation varied from genital ambiguity and inguinal swelling at birth to gynecomastia and cyclical hematuria after puberty. Karyotype was 46, XX in 6 patients and 46, XY in 1 patient. All patients underwent pelvic ultrasonography, laparoscopy, and surgery for removal of gonads not congruous with the chosen sex of rearing. Gender assignment for all the patients was done by the parents at birth, which was mainly influenced by the external genitalia and sociocultural influences, with 5 out of the 7 patients being reared as males. There was no evidence of gonadal tumors in our study. CONCLUSION: OT DSD should be considered as one of the differential diagnoses in cases of ambiguous genitalia with nonpalpable or asymmetrical gonads, pubertal gynecomastia, and cyclical hematuria, irrespective of the karyotype or internal genitalia.
[Mh] Termos MeSH primário: Transtornos Ovotesticulares do Desenvolvimento Sexual/diagnóstico
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Pré-Escolar
Feminino
Seres Humanos
Índia/epidemiologia
Lactente
Masculino
Transtornos Ovotesticulares do Desenvolvimento Sexual/epidemiologia
Transtornos Ovotesticulares do Desenvolvimento Sexual/genética
Transtornos Ovotesticulares do Desenvolvimento Sexual/cirurgia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1607
[Cu] Atualização por classe:150716
[Lr] Data última revisão:
150716
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150320
[St] Status:MEDLINE
[do] DOI:10.4158/EP15606.OR



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