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https://www.readbyqxmd.com/read/28760128/analysis-of-musculoskeletal-dysmorphic-abnormalities-of-20-fetuses
#1
Mehmet Nuri Konya, Muhsin Elmas, Çiğdem Özdemir
OBJECTIVES: This study aims to report rates of skeletal abnormalities and their risk factors in light of information obtained in a fetal autopsy series. PATIENTS AND METHODS: The study included 20 fetuses (11 males, 8 females and 1 ambiguous genitalia; mean age 19.3±4.0 weeks; range 16 to 32 week) who underwent autopsy in our hospital between January 2013 and March 2015. Fetuses were systematically classified according to age, gender, family history, abortus week, abortus type, and extremity and organ abnormalities...
August 2017: Eklem Hastalıkları Ve Cerrahisi, Joint Diseases & related Surgery
https://www.readbyqxmd.com/read/28739554/46-xy-disorder-of-sex-development-due-to-17-beta-hydroxysteroid-dehydrogenase-type-3-deficiency-in-an-infant-of-greek-origin
#2
Assimina Galli-Tsinopoulou, Anastasios Serbis, Eleni Kotanidou, Eleni Litou, Vaia Dokousli, Konstantina Mouzaki, Pavlos Fanis, Vassos Neocleous, Nicos Skordis
17β-hydroxysteroid dehydrogenase type 3 (17βHSD-3) enzyme catalyzes the conversion of androstenedione (Δ4) to testosterone (T) in the testes of the developing fetus, thus playing a crucial role in the differentiation of the gonads and in establishing the male sex phenotype. Any mutation in the encoding gene (HSD17B3) can lead to a varying degree of undervirilization of the affected male that ranges from completely undervirilized external female genitalia to predominantly male with micropenis and hypospadias...
July 24, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28690896/late-diagnosis-of-5-%C3%AE-reductase-type-2-deficiency-in-an-adolescent-girl-with-primary-amenorrhoea
#3
Abdul-Rahman A Hummadi, Ayel O Yahya, Awad M Al-Qahtani
Deficiency of the 5-α-reductase enzyme has been found to affect male sexual development. We report an 18-year-old patient who was referred to an endocrinology clinic in Jizan, Saudi Arabia, in April 2014 with primary amenorrhoea, virilisation and a lack of secondary sex characteristics. As female external genitalia were present at birth, she had been raised as a female. Magnetic resonance imaging revealed no uterine or ovarian tissue in the pelvis and the presence of a scrotal sac. She was diagnosed with 5-α-reductase type 2 deficiency, a 46,XY disorder of sexual development...
May 2017: Sultan Qaboos University Medical Journal
https://www.readbyqxmd.com/read/28682787/in-utero-virilization-secondary-to-a-maternal-krukenberg-tumor-case-report-and-review-of-literature
#4
Carmen Bustamante, Alfonso Hoyos-Martínez, Daniela Pirela, Alejandro Díaz
BACKGROUND: Krukenberg tumors are ovarian metastatic adenocarcinomas with a primary origin usually located in the stomach, colon, gallbladder, pancreas, or breast. Occasionally, these tumors produce virilization in the affected individual due to androgen production by luteinization of the tumoral stroma. It is believed that during pregnancy these tumors are more likely to increase androgen production due to the elevated levels of human chorionic gonadotropin (hCG). High maternal androgens can cross the placenta producing virilization of the female fetus...
July 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28641572/a-child-with-hypertension-and-ambiguous-genitalia-an-uncommon-variant-of-congenital-adrenal-hyperplasia-a-case-report
#5
Vivek Pant, Suman Baral, Bishal Shrestha, Arjun Tumbapo
BACKGROUND: Deficiency in 11β-hydroxylase as a cause of congenital adrenal hyperplasia is uncommon. It should be considered in the differential diagnosis of hypertension with virilization in any prepubescent child. CASE PRESENTATION: A 12-year-old Asian boy from eastern Nepal presented with pain in his abdomen and hypertension. He was raised as a male but had absent testicles since birth and had precocious puberty. Plasma testosterone, follicle-stimulating hormone, and luteinizing hormone were below baseline level...
June 23, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28617986/a-novel-hsd17b3-gene-mutation-in-a-46-xy-female-phenotype-newborn-identified-by-whole-exome-sequencing
#6
Rita Bertalan, Osnat Admoni, Anu Bashamboo, Yardena Tenenbaum-Rakover, Kenneth McElreavey
Deficiency of 17β-hydroxysteroid dehydrogenase 3 (17β-HSD3) enzyme encoded by HSD17B3 is a rare cause of disorders of sexual development (DSD). Mutations in this gene in 46,XY individuals present at birth with external female phenotype or ambiguous genitalia. The diagnosis of 46,XY DSD is very challenging and not rarely is confirmed only at older ages. This article is protected by copyright. All rights reserved.
June 15, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28580451/a-case-with-late-onset-of-ambiguous-genitalia
#7
Soraya Saleh Gargari, Faezeh Azizi, Nasrin Saleh, Mir Davood Omrani
BACKGROUND: Ambiguous genitalia is an uncommon situation that happens between 1 and 2 per every 1000 live births and falls under the umbrella diagnosis of disorders of sexual development. CASE: In this article, we report a case of male pseudohermaphroditism with ambiguous genitalia. The proband was a 12 yr old girl without any uterus or ovarian tissues. Karyotype of the case is 46, XY. Genes involved in sexual differentiation such as AR, SRD5A2, LH, LHR, FSH, 17 B HSD and SRY genes were sequenced in both directions...
March 2017: International Journal of Reproductive Biomedicine (Yazd, Iran)
https://www.readbyqxmd.com/read/28553390/a-neonate-with-x-linked-lissencephaly-with-ambiguous-genitalia
#8
Priyanka Minocha, Anita Choudhary, Shambhavi, Sadasivan Sitaraman
X-linked lissencephaly with ambiguous genitalia is a rare and recently described syndrome. We report a neonate presenting with the classical features of the syndrome which includes lissencephaly, agenesis of the corpus callosum, intractable epilepsy of neonatal onset, acquired microcephaly, and male genotype with ambiguous genitalia. The baby was managed aggressively with antiepileptics. Early clinical suspicion of the syndrome can prevent future such occurrences in the family through genetic counseling.
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28550349/choice-of-repairing-inguinal-hernia-in-children-open-versus-laparoscopy
#9
Venkatachalam Raveenthiran, Prakash Agarwal
Inguinal hernia is a common disorder of childhood that requires surgical repair at diagnosis. Traditionally, it is operated upon by open inguinal incision. However, with the introduction of laparoscopic repair in 1990, opinion of scientific community is divided concerning the best method of pediatric herniotomy. Educated parents, who long to have the choicest of the best, often gather information from internet and prefer to discuss their concerns with primary care physicians. This descriptive review is intended to provide practicing pediatricians with updated evidence-based information which will enable them to counsel parents regarding the choice of hernia repair...
May 27, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28545654/genetic-approach-to-ambiguous-genitalia-and-disorders-of-sex-development-what-clinicians-need-to-know
#10
Svetlana A Yatsenko, Selma Feldman Witchel
Genetic tools such as microarray and next-generation sequencing have initiated a new era for the diagnosis and management of patients with disorders of sex development (DSDs). These tools supplement the traditional approach to the evaluation and care of infants, children, and adolescents with DSDs. These tests can detect genetic variations known to be associated with DSDs, discover novel genetic variants, and elucidate novel mechanisms of gene regulation. Herein, we discuss these tests and their role in the management of patients with DSDs...
June 2017: Seminars in Perinatology
https://www.readbyqxmd.com/read/28535943/pragmatic-approach-to-intersex-including-genital-ambiguity-in-the-newborn
#11
Kanthi Bangalore Krishna, Christopher P Houk, Peter A Lee
The evaluation and management of a newborn with ambiguous genitalia must be undertaken as quickly as possible and with great sensitivity for the child's family. Where possible, a comprehensive team approach with a pediatric urologist, endocrinologist, geneticist, neonatologist, and child psychiatrist/psychologist should work closely with the family to establish the diagnosis and determine gender. Although the preferred gender assignment is not always clear, a thorough examination of endocrine function, karyotype, and potential for fertility should guide the determination...
June 2017: Seminars in Perinatology
https://www.readbyqxmd.com/read/28493439/very-late-presentation-of-a-disorder-of-sex-development
#12
J M Martins, M Fraga, J Miguens, F Tortosa, B Marques, A D Sousa
Disorders of sex development generally present in the neonatal period with ambiguity of external genitalia. We report a very old male patient presenting at 75 years because of panhypopituitarism and a large nonsecreting pituitary macroadenoma secondary to long-standing primary hypogonadism due to 46,XX sex reversal disorder now first diagnosed. Sex development disorders may go unrecognised for the entire life span, despite infertility and long-standing primary gonadic failure may lead to uncommon complications...
May 11, 2017: Andrologia
https://www.readbyqxmd.com/read/28483799/female-to-male-sex-reversal-associated-with-unique-xp21-2-deletion-disrupting-genomic-regulatory-architecture-of-the-dosage-sensitive-sex-reversal-region
#13
Pankaj Dangle, María Sol Touzon, Miguel Reyes-Múgica, Selma F Witchel, Aleksandar Rajkovic, Francis X Schneck, Svetlana A Yatsenko
BACKGROUND: The XX male disorder of sex development (DSD) is a rare condition that is most commonly associated with the presence of the SRY gene on one of the X chromosomes due to unequal crossing-over between sex chromosomes during spermatogenesis. However, in about 20% of the XX male individuals, SRY is missing, although these persons have at least some testis differentiation. The genetic basis of genital ambiguity and the mechanisms triggering testis development in such patients remain unknown...
May 8, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28459839/new-nr5a1-mutations-and-phenotypic-variations-of-gonadal-dysgenesis
#14
Ralf Werner, Isabel Mönig, Ralf Lünstedt, Lutz Wünsch, Christoph Thorns, Benedikt Reiz, Alexandra Krause, Karl Otfried Schwab, Gerhard Binder, Paul-Martin Holterhus, Olaf Hiort
Mutations in NR5A1 have been reported as a frequent cause of 46,XY disorders of sex development (DSD) associated to a broad phenotypic spectrum ranging from infertility, ambiguous genitalia, anorchia to gonadal dygenesis and female genitalia. Here we present the clinical follow up of four 46,XY DSD patients with three novel heterozygous mutations in the NR5A1 gene leading to a p.T40P missense mutation and a p.18DKVSG22del nonframeshift deletion in the DNA-binding domain and a familiar p.Y211Tfs*83 frameshift mutation...
2017: PloS One
https://www.readbyqxmd.com/read/28458886/de-novo-disruption-of-promoter-and-exon-1-of-star-gene-reveals-essential-role-for-gonadal-development
#15
Anil Piya, Jasmeet Kaur, Alan M Rice, Himangshu S Bose
SUMMARY: Cholesterol transport into the mitochondria is required for synthesis of the first steroid, pregnenolone. Cholesterol is transported by the steroidogenic acute regulatory protein (STAR), which acts at the outer mitochondrial membrane prior to its import. Mutations in the STAR protein result in lipoid congenital adrenal hyperplasia (CAH). Although the STAR protein consists of seven exons, biochemical analysis in nonsteroidogenic COS-1 cells showed that the first two were not essential for pregnenolone synthesis...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28442467/recognition-and-assessment-of-atypical-and-ambiguous-genitalia-in-the-newborn
#16
REVIEW
Justin H Davies, Timothy Cheetham
The baby with atypical or ambiguous genitalia is usually born in secondary care. For most clinicians, this is an unfamiliar and challenging scenario with the potential for life-long ramifications arising from a consultation led by an unprepared clinician. Language needs to be used carefully with particular clarity when liaising with parents, local health professionals and the specialist multidisciplinary team. Confidence in the recognition and assessment of atypical or ambiguous genitalia in a newborn will guide the local clinician when deciding on the initial investigations required and is a foundation for subsequent management...
April 25, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28434637/clinical-heterogeneity-in-children-with-gonadal-dysgenesis-associated-with-non-mosaic-46-xy-karyotype
#17
Y S Wong, Y H Tam, K K Y Pang, K F To, S S C Chan, K W Chan, K H Lee
INTRODUCTION: Gonadal dysgenesis is unique in disorders of sex development (DSD), in that it can be associated with 46,XX, 46,XY or mosaic 45,X/46,XY karyotypes. Gonadal dysgenesis can be partial or complete. Gonadal dysgenesis associated with the Y-chromosome has increased risk of gonadal germ cell neoplasms. Most of the literature focus on 45,X/46,XY gonadal dysgenesis, while there are scanty data on the condition when the karyotype is non-mosaic 46,XY. OBJECTIVE: To investigate the diversity of clinical pictures of children presenting with 46,XY DSD due to gonadal dysgenesis...
April 10, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28370681/disorder-of-sex-development-in-a-cat-with-chromosome-mosaicism-37-x-38-x-r-y
#18
I Szczerbal, M Stachowiak, J Nowacka-Woszuk, S Dzimira, K Szczepanska, M Switonski
An 18-month-old European shorthair cat was subjected to genetic studies due to ambiguous external genitalia (underdeveloped both penis and scrotum). Further anatomic and histopathological studies revealed the presence of abdominal, atrophic testes and uterus. Cytogenetic analysis showed two cell lines, one with X monosomy-37,X [90% of the analysed metaphase spreads], and other line had 38 chromosomes with normal X chromosome and abnormally small Y-derived chromosome-38,X,der(Y) [10%]. Further fluorescence in situ hybridization study with telomeric probe revealed a ring structure of the der(Y)...
March 30, 2017: Reproduction in Domestic Animals, Zuchthygiene
https://www.readbyqxmd.com/read/28351396/evaluation-and-treatment-for-ovotesticular-disorder-of-sex-development-ot-dsd-experience-based-on-a-chinese-series
#19
Yu Mao, Shaoji Chen, Ru Wang, Xuejun Wang, Daorui Qin, Yunman Tang
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)...
March 28, 2017: BMC Urology
https://www.readbyqxmd.com/read/28333603/focal-segmental-glomerulosclerosis-in-a-patient-with-ambiguous-genitalia-a-diagnostic-dilemma
#20
Oliver E Ross, Dean A Kujubu, John J Sim
The renal condition referred to as focal segmental glomerulosclerosis (FSGS) presents a diagnostic dilemma for the clinician. It encompasses and displays a nonspecific histologic appearance on a kidney biopsy specimen, rather than a unique disease entity. This characteristic of FSGS often makes treatment decisions and prognostication difficult. A 34-year-old man, who was born with ambiguous genitalia, had received a diagnosis of FSGS in young adulthood and now had advanced kidney disease. He underwent genetic testing to determine whether a genetic disorder was underlying his kidney disease and to ascertain his risk of FSGS recurrence if he were to receive a kidney transplant...
2017: Permanente Journal
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