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Mixed gonadal dysgenesis

Georgette Beatriz De Paula, Beatriz Amstalden Barros, Stela Carpini, Bruna Jordan Tincani, Tais Nitsch Mazzola, Mara Sanches Guaragna, Cristiane Santos da Cruz Piveta, Laurione Candido de Oliveira, Juliana Gabriel Ribeiro Andrade, Guilherme Guaragna-Filho, Pedro Perez Barbieri, Nathalia Montibeler Ferreira, Marcio Lopes Miranda, Ezequiel Moreira Gonçalves, Andre Moreno Morcillo, Nilma Lucia Viguetti-Campos, Sofia Helena Valente Lemos-Marini, Roberto Benedito de Paiva Silva, Antonia Paula Marques-de-Faria, Maricilda Palandi De Mello, Andrea Trevas Maciel-Guerra, Gil Guerra-Junior
Objective. To evaluate diagnosis, age of referral, karyotype, and sex of rearing of cases with disorders of sex development (DSD) with ambiguous genitalia. Methods. Retrospective study during 23 years at outpatient clinic of a referral center. Results. There were 408 cases; 250 (61.3%) were 46,XY and 124 (30.4%) 46,XX and 34 (8.3%) had sex chromosomes abnormalities. 189 (46.3%) had 46,XY testicular DSD, 105 (25.7%) 46,XX ovarian DSD, 95 (23.3%) disorders of gonadal development (DGD), and 19 (4.7%) complex malformations...
2016: International Journal of Endocrinology
Elena Bennecke, Ute Thyen, Annette Grüters, Anke Lux, Birgit Köhler
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...
December 22, 2016: Clinical Endocrinology
N Y Zhang, D F Cao, H Zheng, Y N Gao
No abstract text is available yet for this article.
December 23, 2016: Zhonghua Zhong Liu za Zhi [Chinese Journal of Oncology]
Deepa Makhija, Hemanshi Shah, Charu Tiwari, Shalika Jayaswal, Jayesh Desale
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...
2016: Developmental Period Medicine
He Huang, Chunqing Wang, Qinjie Tian
OBJECTIVE: Phenotypic female disorders of sex development (DSD) patients with Y chromosome or Y-derived sequence have an increased risk of gonadal germ cell tumours (GCTs). The objective of the study was to evaluate tumour risk of DSD, summarize the clinical characteristics of patients with GCTs and propose management suggestions. METHODS: Medical records of 292 patients diagnosed DSD and undergoing bilateral gonadectomy at Peking Union Medical College Hospital from January 1996 to March 2016 were retrospectively reviewed...
October 13, 2016: Clinical Endocrinology
J P Van Batavia, T F Kolon
INTRODUCTION: Disorders of sex development (DSD) are a heterogeneous group of complex conditions that can affect chromosomal, gonadal, and/or phenotypical sex. In addition to impacts on internal and external genitalia,these conditions can affect fertility potentialto various degrees. In this review we discuss fertility issues including gonadalpreservation and reproductive outcomes based on specific DSD conditions. METHODS AND MATERIALS: A systematic literature review was performed on Embase(™), PubMed(®), and Google Scholar(™) for disordersof sex development and infertility...
December 2016: Journal of Pediatric Urology
(no author information available yet)
[This retracts the article on p. 226 in vol. 20, PMID: 26817010.].
September 2016: Annals of Pediatric Endocrinology & Metabolism
Fumi Matsumoto, Futoshi Matsui, Koji Yazawa, Kenji Shimada
Transverse testicular ectopia (TTE) is a rare form of ectopic testis observed in boys with a normal 46, XY karyotype. TTE can be associated with persistent Müllerian duct syndrome or other genital anomalies such as hypospadias. However, TTE concomitant with both persistent Müllerian duct remnants and hypospadias has never been reported in the literature. A case of chromosomal disorders of sex development with TTE and persistent Müllerian duct remnants, which was initially presumed to represent mixed gonadal dysgenesis, is presented...
October 17, 2016: Urology
Raghu S Ramareddy, Anand Alladi
AIM: To report a series of scrotal abscess, a rare problem, their etiology, and management. MATERIALS AND METHODS: A retrospective study of children who presented with scrotal abscess between January 2010 and March 2015, analyzed with respect to clinical features, pathophysiology of spread and management. RESULTS: Eight infants and a 3-year-old phenotypically male child presented with scrotal abscess as a result of abdominal pathologies which included mixed gonadal dysgenesis (MGD) [1]; three anorectal malformations with ectopic ureter [1], urethral stricture [1], and neurogenic bladder [1]; meconium peritonitis with meconium periorchitis [2], ileal atresia [1], and intra-abdominal abscess [1]; posturethroplasty for Y urethral duplication with metal stenosis [1] and idiopathic pyocele [1]...
October 2016: Journal of Indian Association of Pediatric Surgeons
F F Mouafo Tambo, S Dahoun, C Kamadjou, A S Nwaha Makon, G Fossi, O G Andze, M A Sosso, P Y Mure
UNLABELLED: Mixed gonadal dysgenesis is characterised by unilateral chromosomal abnormality, which is probably the result of anaphase lag during mitosis. The 45, XO/46, XY karyotype is the most common form of mosaicism involving the Y chromosome. It is a rare clinical entity with a worldwide incidence of 1.5/10,000 live births. Its epidemiology in Sub-Saharan Africa is not known. This study reports experience in the management of 3 cases at the Yaounde Gynecologic-Obstetric and Paediatric Hospital...
July 2016: African Journal of Paediatric Surgery: AJPS
Shanshan Wang, Haibo Li, Min Su, Xiaoqing Yang, Hua Huang, Yuquan Zhang, Hong Li, Jianlin Zhang
OBJECTIVE: To investigate the clinical and genetic characteristics of a patient with mixed gonadal dysgenesis. METHODS: Clinical data was collected. The patient was subjected for serum hormone testing and G-banding chromosomal analysis. Sex-determining region of Y-chromosome (SRY) gene and azoospermia factor (AZF) a, b, c regions were analyzed with multiple polymerase chain reaction (PCR) and whole gene sequencing. RESULTS: All serum hormone testing were normal...
April 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Padam Kumari Agarwal, Mustafa Ali, Ritu Ranjan, Ashutosh Pandey
Mixed gonadal dysgenesis (MGD) is a rare disorder of sexual development (DSD). A seven-year-old child with vagina and an elongated clitoris looking like a penile part of male external genitalia, presented in the Paediatric Surgery Department. Ultrasound of pelvis revealed a streak ovary on the right side and ovotestis on the left side. Uterus was not visualized. Karyotyping revealed 46, XY/45, XO genotype. Laparoscopic gonadectomy with vaginoplasty and the clitoral reduction was performed. A thorough histopathological examination of the specimen revealed structure of ovotestis-consisting of the ovary with Graafian follicles, fallopian tube, infantile testis with Leydig and Sertoli cells, epididymis, vas deference, and pampiniform plexus...
January 2016: Indian Journal of Pathology & Microbiology
Naveen P Kumar, Venugopal M, Anitha Mathews, Francis V James
Swyer syndrome or pure gonadal dysgenesis 46, XY is a medical condition associated with 46 XY karyotype and primary amenorrhea in a phenotypic female. In this syndrome, there is an abnormality in testicular differentiation. Patients with disorders in sexual differentiation have an increased risk for development of genital malignancies. A 14-year-old female admitted with abdominal pain was diagnosed to have Swyer syndrome and a pelvic tumor after clinical and laboratory investigations. She underwent surgery, and the histology report revealed a mixed germ cell tumor in a dysgenetic gonad...
2016: Curēus
Jae Yeop Jung, Sohyoung Yang, Eun-Hwan Jeong, Ho-Chang Lee, Yong-Moon Lee, Heon-Seok Han, Kyung Hee Yi
Turner syndrome is the most common chromosomal disorder in girls. Various phenotypic features show depending upon karyotype from normal female through ambiguous genitalia to male. Usually, Turner girls containing 45,X/46,XY mosaicism, or sex-determining region Y (SRY) gene may have mixed gonadal dysgenesis with various external sexual differentiation. We experienced a short statured 45,X Turner girl with normal external genitalia. Because SRY gene was positive, laparoscopic gonadectomy was performed. The dysgenetic gonads revealed bilateral ovotesticular tissues...
December 2015: Annals of Pediatric Endocrinology & Metabolism
Guang Chen, Jingtao Dou, Guoqing Yang, Weijun Gu, Jin Du, Kang Chen, Li Zang, Nan Jin, Xianling Wang, Lijuan Yang, Zhaohui Lyu, Jianming Ba, Juming Lu, Jiangyuan Li, Changyu Pan, Yiming Mu
OBJECTIVE: To investigate the clinical features, therapeutic regimens and follow-up information of patients with 45, X/46, XY mixed gonadal dysgenesis in order to improve the diagnosis and treatment of the disease. METHODS: We performed a retrospective review of patients with 45, X/46, XY mosaicism hospitalized in Chinese PLA General Hospital between 2000 and 2014. The clinical features,sex hormones,treatment and follow-up information were summarized. RESULTS: (1) Seven patients ranging 12-17 years old were diagnosed as having 45, X/46, XY mixed gonadal dysgenesis...
November 2015: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
Jian-Fa Jiang, Wei Xue, Yan Deng, Qin-Jie Tian, Ai-Jun Sun
The objective of this study was to examine risks for gonadal malignancy in a large sample of adult female patients with disorders of sex development (DSD). A retrospective-observational study was conducted from July 1992 to March 2015 and 202 women with DSD were enrolled. Tumor risks for different types of DSD were measured. We found that the patients' total gonadal-malignancy risk was 18.3% (37/202). Tumors included gonadoblastoma (n = 11), seminoma (n = 8), dysgerminoma (n = 5), choriocarcinoma (n = 1), sertoli cell tumors (n = 11), and leydig cell tumors (n = 1)...
2016: Gynecological Endocrinology
Ayhan Abacı, Gönül Çatlı, Merih Berberoğlu
Disorders of sex development (DSD) are a generic definition including any problem noted at birth where the genitalia are atypical in relation to the chromosomes or gonads. The most important clinical problems in DSD comprise physical and psychological disturbances and the risk of gonadal tumor development. Germ cell tumor risk is lowest (<5%) in patients with defects in androgene action or synthesis (such as complete androgen insensitivity syndrome, 5α-reductase deficiency), whereas the highest risk (15%-60%) is observed in 46,XY gonadal dysgenesis...
September 2015: Journal of Pediatric Endocrinology & Metabolism: JPEM
Noriko Nishina-Uchida, Ryuji Fukuzawa, Yukihiro Hasegawa, Ian M Morison
Mixed gonadal dysgenesis (MGD) is a disorder of sexual development that typically has a mosaic 45,X/46,XY karyotype. A 1-year-old infant with 46,XY identified by peripheral blood karyotype demonstrated clinical manifestations and gonadal pathologic features of MGD. Fluorescence in situ hybridization (FISH) for X and Y chromosomes and immunofluorescence for SRY along with testicular and ovarian lineage markers SOX9 and FOXL2, respectively, were performed on paraffin sections from the gonad to ascertain the somatic mosaic state for 45,X monosomy and 46,XY cells...
April 2015: Medicine (Baltimore)
Kranti S Khadilkar, Sweta R Budyal, Rajeev Kasaliwal, Pragati A Sathe, Bhuvaneshwari Kandalkar, Beejal V Sanghvi, Sandesh V Parelkar, Anurag R Lila, Tushar Bandgar, Nalini S Shah
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...
July 2015: Endocrine Practice
Fahimeh Soheilipour, Ommolbanin Abed, Babak Behnam, Mohammadreza Abdolhosseini, Peyman Alibeigi, Abdolreza Pazouki
INTRODUCTION: We present a rare patient case with mixed gonadal dysgenesis as a disorder of sex development (DSD) and a new pattern of chromosome in the karyotype, 45, X/46, X, +mar(Y). PRESENTATION OF CASE: A ten-year-old boy, raised in a nursery center, presented with ambiguous genitalia. Two cell lines, (45, X) and [46,X, +mar(Y)] were observed utilizing cytogenetic investigation including fluorescence in situ hybridization (FISH) which were carried out on his peripheral lymphocytes...
2015: International Journal of Surgery Case Reports
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