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https://www.readbyqxmd.com/read/27899089/familial-forms-of-disorders-of-sex-development-may-be-common-if-infertility-is-considered-a-comorbidity
#1
Raja Brauner, Flavia Picard-Dieval, Henri Lottmann, Sébastien Rouget, Joelle Bignon-Topalovic, Anu Bashamboo, Ken McElreavey
BACKGROUND: Families with 46,XY Disorders of Sex Development (DSD) have been reported, but they are considered to be exceptionally rare, with the exception of the familial forms of disorders affecting androgen synthesis or action. The families of some patients with anorchia may include individuals with 46,XY gonadal dysgenesis. We therefore analysed a large series of patients with 46,XY DSD or anorchia for the occurrence in their family of one of these phenotypes and/or ovarian insufficiency and/or infertility and/or cryptorchidism...
November 29, 2016: BMC Pediatrics
https://www.readbyqxmd.com/read/27887913/prospective-assessment-of-cosmesis-before-and-after-genital-surgery
#2
N J Nokoff, B Palmer, A J Mullins, C E Aston, P Austin, L Baskin, K Bernabé, Y-M Chan, E Y Cheng, D A Diamond, A Fried, D Frimberger, D Galan, L Gonzalez, S Greenfield, T Kolon, B Kropp, Y Lakshmanan, S Meyer, T Meyer, L L Mullins, A Paradis, D Poppas, P Reddy, M Schulte, K J Scott Reyes, J M Swartz, C Wolfe-Christensen, E Yerkes, A B Wisniewski
INTRODUCTION: Little data exist about the surgical interventions taking place for children with disorders of sex development (DSD). Most studies that have evaluated cosmetic outcomes after genitoplasty have included retrospective ratings by a physician at a single center. OBJECTIVE: The present study aimed to: 1) describe frequency of sex assignment, and types of surgery performed in a cohort of patients with moderate-to-severe genital ambiguity; and 2) prospectively determine cosmesis ratings by parents and surgeons before and after genital surgery...
October 8, 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/27867895/gender-of-rearing-and-psychosocial-aspect-in-46-xx-congenital-adrenal-hyperplasia
#3
Arushi Gangaher, Viveka P Jyotsna, Vasundhera Chauhan, Jomimol John, Manju Mehta
BACKGROUND: In congenital adrenal hyperplasia (CAH) with ambiguous genitalia, assigning gender of rearing can be complex, especially If genitalia is highly virilized. Apart from karyotype, prenatal androgen exposure, patient's gender orientation, sociocultural, and parental influences play a role. The aim of this study was to assess gender dysphoria and psychosocial issues in patients of CAH raised as males and females. MATERIALS AND METHODS: This is a cross-sectional study that includes patients (old and new) with CAH who were treated by us in the last 6 months...
November 2016: Indian Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27857458/magnetic-resonance-neurographic-confirmation-of-extensive-plexiform-neurofibroma-in-neurofibromatosis-1-presenting-as-ambiguous-genitalia
#4
Ishan Kumar, Ashish Verma, Ritu Ojha, Priyanka Aggarwal, Ram C Shukla, Arvind Srivastava
Genitourinary involvement of neurofibromatosis is uncommon and genital neurofibromatosis is even rarer. Involvement of clitoris by neurofibroma can lead to clitoromegaly masquerading as a male penis. We report such a case of ambiguous genitalia in a 7-year-old female child presenting with clitoromegaly since birth, in which magnetic resonance imaging (MRI) revealed the presence of extensive neurofibromatosis in the clitoris and lumbosacral regions. We emphasize the central role of MRI in evaluation of hormonal and non-hormonal causes of ambiguous genitalia...
July 2016: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/27821748/spatiotemporal-dynamics-of-androgen-signaling-underlie-sexual-differentiation-and-congenital-malformations-of-the-urethra-and-vagina
#5
Christine E Larkins, Ana B Enriquez, Martin J Cohn
Disorders of sex development (DSDs) are congenital anomalies that affect sexual differentiation of genitourinary organs and secondary sex characters. A common cause of female genital virilization is congenital adrenal hyperplasia (CAH), in which excess androgen production during development of 46XX females can result in vaginal atresia, masculinization of the urethra, a single urogenital sinus, and clitoral hypertrophy or ambiguous external genitalia. Development of the vagina depends on sexual differentiation of the urogenital sinus ridge, an epithelial thickening that forms where the sex ducts attach to the anterior urethra...
November 22, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27806792/-analysis-of-clinical-features-and-related-genes-variation-in-five-patients-with-46-xx-male-syndrome
#6
X Y Qin, W K Dong, W Wang, Z Y Dong, Y Xiao, W L Lu, D F Wang
Objective: To explore the clinical manifestations and molecular features of 46, XX male syndrome. Method: The clinical and molecular data of five 46, XX male syndrome cases treated in the Department of Pediatrics of Shanghai Ruijin Hospital form August 2010 to August 2014 were retrospectively analyzed. Result: The five patients were all sociopsychologically males and came to hospital respectively for short stature, ambiguous genitalia or gynecomastia. They were all below the normal male's average height, and their karyotype was all 46, XX...
November 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27799946/anti-m%C3%A3-llerian-hormone-as-a-marker-of-steroid-and-gonadotropin-action-in-the-testis-of-children-and-adolescents-with-disorders-of-the-gonadal-axis
#7
REVIEW
Nadia Y Edelsztein, Romina P Grinspon, Helena F Schteingart, Rodolfo A Rey
In pediatric patients, basal testosterone and gonadotropin levels may be uninformative in the assessment of testicular function. Measurement of serum anti-Müllerian hormone (AMH) has become increasingly widespread since it provides information about the activity of the male gonad without the need for dynamic tests, and also reflects the action of FSH and androgens within the testis. AMH is secreted in high amounts by Sertoli cells from fetal life until the onset of puberty. Basal AMH expression is not dependent on gonadotropins or sex steroids; however, FSH further increases and testosterone inhibits AMH production...
2016: International Journal of Pediatric Endocrinology
https://www.readbyqxmd.com/read/27777794/molecular-analysis-of-cyp21a2-gene-mutations-among-iraqi-patients-with-congenital-adrenal-hyperplasia
#8
Ruqayah G Y Al-Obaidi, Bassam M S Al-Musawi, Munib Ahmed K Al-Zubaidi, Christian Oberkanins, Stefan Németh, Yusra G Y Al-Obaidi
Congenital adrenal hyperplasia is a group of autosomal recessive disorders. The most frequent one is 21-hydroxylase deficiency. Analyzing CYP21A2 gene mutations was so far not reported in Iraq. This work aims to analyze the spectrum and frequency of CYP21A2 mutations among Iraqi CAH patients. Sixty-two children were recruited from the Pediatric Endocrine Consultation Clinic, Children Welfare Teaching Hospital, Baghdad, Iraq, from September 2014 till June 2015. Their ages ranged between one day and 15 years...
2016: Enzyme Research
https://www.readbyqxmd.com/read/27660460/the-increasing-prevalence-in-intersex-variation-from-toxicological-dysregulation-in-fetal-reproductive-tissue-differentiation-and-development-by-endocrine-disrupting-chemicals
#9
REVIEW
Alisa L Rich, Laura M Phipps, Sweta Tiwari, Hemanth Rudraraju, Philip O Dokpesi
An increasing number of children are born with intersex variation (IV; ambiguous genitalia/hermaphrodite, pseudohermaphroditism, etc.). Evidence shows that endocrine-disrupting chemicals (EDCs) in the environment can cause reproductive variation through dysregulation of normal reproductive tissue differentiation, growth, and maturation if the fetus is exposed to EDCs during critical developmental times in utero. Animal studies support fish and reptile embryos exhibited IV and sex reversal when exposed to EDCs...
2016: Environmental Health Insights
https://www.readbyqxmd.com/read/27617556/male-pseudohermaphroditism-ambiguous-genitalia
#10
C R Bonarriba Beltrán, L Fernández, D Alonso, F García-Montes
No abstract text is available yet for this article.
September 2016: Archivos Españoles de Urología
https://www.readbyqxmd.com/read/27590395/rodriguez-lethal-acrofacial-dysostosis-syndrome-with-ambiguous-genitalia
#11
Ulku Mete Ural, Serdar Ceylaner
No abstract text is available yet for this article.
August 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27547264/recent-trends-in-gender-ratio-at-birth-in-hangzhou-china
#12
L Tang, L Q Qiu, Kkw Yau, Y V Hui, C W Binns, A H Lee
INTRODUCTION: Higher than normal sex ratios at birth in China have been reported since the early 1980's. This study aimed to investigate recent trends in sex ratio at birth in Hangzhou, capital of Zhejiang Province in southeast China. METHODS: Information on selected maternal and birth-related characteristics was extracted from the Hangzhou Birth Information Database for all pregnant women who delivered live births during 2005-2014. The sex ratios at birth were calculated after excluding infants with missing data on gender and those born with ambiguous genitalia...
December 2015: Vietnam Journal of Public Health
https://www.readbyqxmd.com/read/27500688/maternal-uniparental-disomy-for-chromosome-6-in-a-patient-with-iugr-ambiguous-genitalia-and-persistent-mullerian-structures
#13
Joanna Lazier, Nicole Martin, James Dimitrios Stavropoulos, David Chitayat
Maternal uniparental disomy of chromosome 6 [upd(6)mat] is rare and has only been previously reported 13 times with the main associated phenotype being IUGR. We present a case of a male patient with isodisomy upd(6)mat resulting in severe IUGR and ambiguous genitalia, a phenotype not previously described in association with this chromosome finding. The patient initially presented prenatally with IUGR at 19 weeks gestation with placental dysfunction and ambiguous genitalia noted at 27 weeks. Postnatally, the patient had external genital abnormalities, the gonads were in the inguinal canal and there was a rudimentary appearing vagina and uterus...
August 8, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27391116/systematization-of-ambiguous-genitalia
#14
Zograb Makiyan
No abstract text is available yet for this article.
July 8, 2016: Organogenesis
https://www.readbyqxmd.com/read/27376429/delayed-diagnosis-of-disorder-of-sex-development-dsd-due-to-p450-oxidoreductase-por-deficiency
#15
Vasiliki Koika, Anastasia K Armeni, Neoklis A Georgopoulos
CASE PRESENTATION: A 36-year old man, operated on for cryptorchidism at the age of 8 years, was referred to the Outpatient Clinic of Reproductive Endocrinology for investigation of infertility. Clinical examination revealed ambiguous genitalia: penis 4-5 cm, testicular volume 2-3 ml, hypospadias, hypertrophic foreskin and scrotum bifida. Mild hypertension was confirmed. No skeletal malformations were detected. DESIGN: Hormonal and electrolytic determinations as well as semen analysis were conducted...
April 2016: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27316665/splicing-analysis-of-cyp11b1-mutation-in-a-family-affected-with-11%C3%AE-hydroxylase-deficiency-case-report
#16
Pattaranatcha Charnwichai, Patra Yeetong, Kanya Suphapeetiporn, Vichit Supornsilchai, Taninee Sahakitrungruang, Vorasuk Shotelersuk
BACKGROUND: Congenital adrenal hyperplasia (CAH) due to steroid 11β-hydroxylase deficiency (11β-OHD) is a rare form of CAH associated with low renin hypertension, hypokalemia, hyperandrogenemia and ambiguous genitalia in affected females. Herein we describe the clinical, hormonal and molecular characteristics of two Uzbekistan siblings with 11β-OHD and analyze the effects of a splicing mutation. CASE PRESENTATION: A 46,XX girl presented with genital ambiguity and low renin hypertension; her 46,XY brother presented with precocious puberty...
2016: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/27306473/smith-lemli-opitz-syndrome-a-challenging-prenatal-diagnosis
#17
Agata Szpera-Goździewicz, Mariola Ropacka-Lesiak, Paweł Rzymski, Grzegorz H Bręborowicz
The aim of the study was to present a case of Smith-Lemli-Opitz syndrome (SLOS) in a fetus of a 33-year-old patient. At 31 weeks of gestation, the following fetal malformations were detected on an ultrasound: atrioventricular septal defect (AVSD), aortic coarctation, shortening of the lower limbs, narrow forehead, hyperthelorism, micrognathia, anteverted nares, ambiguous genitalia, and signs of intrauterine growth restriction. The baby died 11 days after birth. Further genetic screening of the parents revealed the 7-DHCR enzyme mutation in both of them...
2016: Ginekologia Polska
https://www.readbyqxmd.com/read/27294221/congenital-adrenal-hyperplasia-and-vanishing-testis-rare-case-of-male-pseudohermaphroditism
#18
Azam Ghanei, Golnaz Mohammadzade, Ehsan Zarepur, Sedigheh Soheilikhah
BACKGROUND: Congenital adrenal hyperplasia (CAH) and vanishing testes are uncommon diseases that can result from hormonal and mechanical factors. Classic CAH is determined by ambiguous genitalia and increase in amount of 17-Hydroxyprogesterone. Simultaneous occurrence of CAH and vanishing testes is a rare condition. CASE: A 22-year-old boy, known case of CAH who was diagnosed as female pseudohermaphroditism due to ambiguous genitalia, was referred to Shahid Sadoughi Hospital, Yazd, Iran with colicky abdominal pain and hematuria...
March 2016: International Journal of Reproductive Biomedicine (Yazd, Iran)
https://www.readbyqxmd.com/read/27272047/penile-length-and-testicular-volume-in-newborns
#19
Rakesh Mondal, Somosri Ray, Kaushani Chatterjee, Tapas Kumar Sabui, Avijit Hazra, Suman Das, Jasodhara Chaudhuri, Archan Sil, Moumita Samanta
OBJECTIVES: To measure Penile length (PL) and Testicular volume (TV) in newborn boys for assessing genital abnormalities. METHODS: In a tertiary care setting, measurements of PL and TV were recorded from 480 babies born on alternate days except the weekend, at 24 to 72 h of life by one investigator with the same set of instruments. The penis was stretched to the point of increased resistance and the distance from the tip of the glans penis to the pubic ramus was measured as the stretched PL...
November 2016: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/27256151/aromatase-deficiency-a-novel-compound-heterozygous-mutation-identified-in-a-chinese-girl-with-severe-phenotype-and-obvious-maternal-virilization
#20
Wen-Jiao Zhu, Tong Cheng, Hui Zhu, Bing Han, Meng-Xia Fan, Ting Gu, Shuang-Xia Zhao, Yang Liu, Kai-Xiang Cheng, Huai-Dong Song, Jie Qiao
BACKGROUND: Aromatase deficiency is a rare autosomal recessive disorder that is caused by an impairment of androgen conversion to estrogens. Affected 46, XX individuals generally present with virilization of external genitalia at birth and mutations in CYP19A1 gene. OBJECTIVE: This study described the clinical features and molecular basis of a Chinese 46, XX girl born with ambiguous genitalia and investigated the functional alteration of two novel mutations of the CYP19A1 gene...
September 15, 2016: Molecular and Cellular Endocrinology
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