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ambiguous genitalia

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https://www.readbyqxmd.com/read/29674868/a-distinct-species-dodona-formosana-detected-in-the-dodona-eugenes-species-complex-clarification-of-the-taxonomic-status-of-the-punch-butterfly-in-taiwan
#1
Li-Wei Wu, Wen-Jie Lin, Yu-Feng Hsu
The Tailed Punch, Dodona eugenes , is widely distributed in East Asia with seven subspecies currently recognized. However, two of them, namely ssp. formosana and ssp. esakii found in Taiwan, are hard to distinguish from each other due to ambiguous diagnostic characters. In this study, their taxonomic status is clarified by comparing genitalia characters and phylogenetic relationships based on mitochondrial sequences, COI and COII (total 2211 bps). Our results show that there is no reliable feature to separate these two subspecies...
2018: ZooKeys
https://www.readbyqxmd.com/read/29652239/ovotesticular-disorder-of-sex-development-ovotestis-in-simpson-golabi-behmel-syndrome-expansion-of-the-clinical-spectrum
#2
Monique E De Paepe, Lawrence Young, Julie R Jones, Umadevi Tantravahi
Simpson-Golabi-Behmel syndrome type I (SGBS, OMIM312870), caused by defects of the GPC3 and GPC4 genes on chromosome Xq26, is an X-linked recessive macrosomia/multiple congenital anomaly disorder characterized by somatic overgrowth, coarse facial features, variable congenital anomalies, increased tumor risk, and mild-to-moderate neurodevelopmental anomalies. We report the postmortem findings in 3 second-trimester male siblings with SGBS who displayed ambiguous genitalia (in all 3) and gonadal dysgenesis (ovotestis) (in 1), thus expanding the SGBS spectrum to include these disorders of sex development...
January 1, 2018: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29595517/parental-perception-of-terminology-of-disorders-of-sex-development-in-western-turkey-running-head-parental-perception-of-dsd-terminology
#3
Sibel Tiryaki, Ali Tekin, Ismail Yagmur, Samim Özen, Burcu Özbaran, Damla Gökşen, Şükran Darcan, İbrahim Ulman, Ali Avanoğlu
OBJECTIVE: "Disorders of sex development (DSD)" is a nomenclature proposed to defeat the discomfort of families and patients and has found worldwide usage. The aim of this study is addressing the perception and usage of terminology among the parents of DSD patients in a tertiary center in western Turkey. METHODS: The records of the DSD council between years 2008-2015 were reviewed retrospectively and data including details of the management process, patient characteristics and follow-up details were noted...
March 29, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29595516/a-rare-cause-of-congenital-adrenal-hyperplasia-clinical-and-genetic-findings-and-follow-up-characteristics-of-six-patients-with-17-hydroxylase-deficiency-and-two-novel-mutations
#4
Aslı Derya Kardelen, Güven Toksoy, Firdevs Baş, Zehra Yavaş Abalı, Genco Gençay, Şükran Poyrazoğlu, Rüveyde Bundak, Umut Altunoğlu, Şahin Avcı, Adam Najaflı, Oya Uyguner, Birsen Karaman, Seher Başaran, Feyza Darendeliler
BACKGROUND: 17-α-hydroxylase/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia (CAH), characterized by hypertension and varying degrees of ambiguous genitalia and delayed pu-berty. The disease is associated with bi-allelic mutations in the CYP17A1 gene located on chromosome 10q24.3. We aimed to present clinical and genetic findings and follow-up and treatment of 17-OHD patients. PATIENTS AND METHODS: We evaluated six patients with 17OHD from five families at presentation and at follow up...
March 29, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29575631/biallelic-loss-of-function-wnt5a-mutations-in-an-infant-with-severe-and-atypical-manifestations-of-robinow-syndrome
#5
Johannes Birgmeier, Edward D Esplin, Karthik A Jagadeesh, Harendra Guturu, Aaron M Wenger, Hassan Chaib, Julia A Buckingham, Gill Bejerano, Jonathan A Bernstein
Robinow syndrome (RS) is a well-recognized Mendelian disorder known to demonstrate both autosomal dominant and autosomal recessive inheritance. Typical manifestations include short stature, characteristic facies, and skeletal anomalies. Recessive inheritance has been associated with mutations in ROR2 while dominant inheritance has been observed for mutations in WNT5A, DVL1, and DVL3. Through trio whole genome sequencing, we identified a homozygous frameshifting single nucleotide deletion in WNT5A in a previously reported, deceased infant with a unique constellation of features comprising a 46,XY disorder of sex development with multiple congenital malformations including congenital diaphragmatic hernia, ambiguous genitalia, dysmorphic facies, shortened long bones, adactyly, and ventricular septal defect...
April 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29553041/aromatase-deficiency-due-to-a-novel-mutation-in-cyp19a1-gene
#6
Edip Ünal, Ruken Yıldırım, Funda Feryal Taş, Vasfiye Demir, Hüseyin Onay, Yusuf Kenan Haspolat
BACKGROUND: Aromatase deficiency is a rare autosomal recessive genetic disorder with an unknown incidence. Aromatase converts androgens into estrogen in the gonadal and extra-gonadal tissues. Aromatase deficiency causes ambiguous genitalia in the female fetus and maternal virilization (hirsutism, acne, cliteromegaly, deep voice) during the pregnancy due to increased concentration of androgens. METHODS AND RESULTS: The-nineteen-month-old girl was assessed due to ambiguous genitalia There were findings of maternal virilization during pregnancy...
March 19, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29538102/use-of-the-masquerade-flap-in-ablepharon-macrostomia-syndrome-a-case-report
#7
Karolien Hollanders, Ingele Casteels, Sylvie Vandelanotte, Rudolf Reyniers, Katarina Segers, Thomas Nevens, Ilse Mombaerts
PURPOSE: To report a case of ablepharon-macrostomia syndrome and surgical treatment options. METHODS: Case report and literature review. RESULTS: A prematurely born male baby presented with severe ablepharon, hypertelorism, macrostomia, low-set dysplastic ears, broad nasal bridge, coarse and redundant body skin, absent scalp and body hair, lax abdominal wall, absent nipples, camptodactyly, and ambiguous genitalia. Despite intensive ocular lubrication, severe exposure keratopathy developed within the first days after birth...
March 13, 2018: Cornea
https://www.readbyqxmd.com/read/29537333/correction-to-davutoglu-et-al-prenatal-diagnosis-of-isolated-foetal-hydrocolpos-secondary-to-congenital-imperforate-hymen-mimicking-ambiguous-genitalia
#8
(no author information available yet)
No abstract text is available yet for this article.
March 14, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29525535/long-term-urinary-symptoms-in-adolescent-and-adult-women-with-congenital-adrenal-hyperplasia
#9
M Bogdanska, A Morris, J M Hutson, Y Heloury, S R Grover
BACKGROUND: Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition resulting in excess androgen production. Females are typically born with ambiguous genitalia and often undergo feminising genitoplasty in infancy or childhood. Recently, there has been considerable international debate as to whether distressing urinary symptoms in CAH patients are truly present and, if so, whether these urinary problems are a consequence of the feminising genitoplasty. OBJECTIVE: To identify and assess any urinary symptoms in an Australian cohort of adolescent and adult women with CAH who have undergone feminising genitoplasty in infancy, childhood or adolescence as a part of their management...
February 7, 2018: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29518772/two-cases-with-ring-chromosome-13-at-either-end-of-the-phenotypic-spectrum
#10
Seda Çakmaklı, Tufan Çankaya, Semra Gürsoy, Altuğ Koç, Özgür Kırbıyık, Özge A Kılıçarslan, Erdener Özer, Derya Erçal, Özlem G Bozkaya
Ring chromosome 13 is a rare genetic condition with an incidence of 1/58,000 in live births. Major clinical features of patients with ring chromosome 13 include growth and developmental retardation, microcephaly, facial dysmorphism, ambiguous genitalia, anal atresia, eye malformations, retinoblastoma, and hand, foot, and toe abnormalities. The severity of the phenotype depends on the amount of genetic material lost during ring chromosome formation. Here, we report 2 cases with ring chromosome 13 at either end of the phenotypic spectrum...
March 9, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29502244/a-rare-case-of-hydrometrocolpos-from-persistent-urogenital-sinus-in-patient-affected-by-adrenogenital-syndrome
#11
REVIEW
Igino Simonetti, Piero Trovato, Francesco Verde, Luca Tarotto, Roberto Della Casa, Maria Concetta Lonardo, Gianfranco Vallone, Maria Grazia Caprio
Persistent urogenital sinus (PUGS) is a congenital pathological condition characterized by an abnormal communication between the urethra and vagina, which has an estimated incidence of 0.6/10,000 female births. It could be the only known malformation or part of a syndrome. PUGS is commonly shown by a pelvic mass, related to a distended bladder, hydrometrocolpos which is due to an obstruction leading to the dilation of the vagina and uterus (i.e., imperforate hymen, transverse vaginal septum or atresia, and PUGS) or both...
March 3, 2018: Journal of Ultrasound
https://www.readbyqxmd.com/read/29355488/smith-lemli-opitz-syndrome-in-a-newborn-infant-with-developmental-abnormalities-and-low-endogenous-cholesterol
#12
Yifei Yang, Lindsay Yassan, Edward Ki Yun Leung, Kiang-Teck J Yeo
BACKGROUND: Patients with Smith-Lemli-Opitz Syndrome (SLOS) have defective endogenous cholesterol synthesis, and present with decreased cholesterol levels and multiple developmental dysmorphologies. CASE DESCRIPTION: A newborn infant with normal XY karyotype and normal microarray was born with multiple developmental defects and ambiguous genitalia. The patient was diagnosed with SLOS, following biochemical genetic analysis of serum 7-DHC concentrations. The clinical course of the patient was further complicated by the comorbidities associated with SLOS and the bacterial infections...
April 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29324451/aromatase-deficiency-due-to-a-homozygous-cyp19a1-mutation-in-a-46-xx-egyptian-patient-with-ambiguous-genitalia
#13
Inas Mazen, Ken McElreavey, Aya Elaidy, Alaa K Kamel, Mohamed S Abdel-Hamid
Aromatase deficiency (AD) is a very rare disorder resulting from mutations in the CYP19A1 gene encoding aromatase, a cytochrome P450 enzyme that plays a pivotal role in androgen conversion to estrogens. AD is inherited in an autosomal recessive trait, and to date only 35 cases have been described in the literature. Herein, we depict a new patient reared as a male, who presented at the age of 21 years with no palpable testis, hypoplastic scrotum, penis-like phallus (3 cm), and penoscrotal hypospadias. The patient was born to consanguineous parents, his karyotype was 46,XX, and SRY was negative...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29320783/wt1-gene-mutation-p-r462w-in-a-46-xy-dsd-patient-from-egypt-with-gonadoblastoma-and-review-of-the-literature
#14
Inas Mazen, Heba Hassan, Alaa Kamel, Mona Mekkawy, Ken McElreavey, Mona Essawi
WT1 gene mutations have been described in 46,XY patients with ambiguous genitalia or complete gonadal dysgenesis with or without Wilms' tumor, nephropathy, gonadoblastoma, and other defects, e.g., cryptorchidism or hypospadias. p.R462W is a hot spot mutation in exon 9 and is the most common mutation in patients with Denys-Drash syndrome. However, in this study we report an Egyptian patient with a novel phenotype carrying the p.R462W mutation. We also review the heterogeneity of phenotypes of previously reported patients with the p...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29240611/clinical-and-molecular-characterization-of-the-first-familial-report-of-1p32-microdeletion
#15
Schaida Schirwani, Kath Smith, Meena Balasubramanian
Structural rearrangements of chromosome band 1p31p32 are rare, and their phenotypic consequences remain poorly delineated. Up to 12 patients with learning difficulties, developmental delay, multiple congenital anomalies and microdeletion of the chromosome band 1p31p32 have been described. Inheritance of this deletion has not been reported previously. We describe the inheritance of the 1p32 deletion and discuss the relevance of this deletion to the described phenotype. The differences in clinical and molecular characteristics between the proband and other published reports are reviewed...
April 2018: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29232631/ambiguous-genitalia-a-social-dilemma-in-bangladesh-a-case-report
#16
Mohiuddin Ahsanul Kabir Chowdhury, Rashidul Anwar, Arnab Saha
INTRODUCTION: Ambiguous Genitalia is a form of birth defect in which sex of the newborn cannot be readily distinguishable because of atypical appearance of the external genitalia. CASE REPORT-CLINICAL FINDINGS: The patient, an 8 months old baby, was identified as a female baby since birth; but, some senior members of their neighborhood raised confusion regarding sex differentiation of the child. On examination, there was enlarged clitoris or micropenis, bifid scrotum or labioscrotal fold, and separate presence of urethral and vaginal orifices...
2018: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29228532/pericentric-inversion-of-chromosome-9-in-an-infant-with-ambiguous-genitalia
#17
Arya Sotoudeh, Parastoo Rostami, Maryam Nakhaeimoghadam, Reihaneh Mohsenipour, Nima Rezaei
Pericentric inversion of Chromosome 9 is one of the most common chromosomal abnormalities, which could be associated with various manifestations in some cases. Herein, a patient is presented with ambiguous genitalia that karyotyping revealed pericentric inversion of Chromosome 9 (p12,q13). Pericentric inversion of Chromosome 9 could be considered in the list of differential diagnosis of those with ambiguous genitalia, while chromosomal karyotype and culture could be recommended in children with ambiguous genitalia...
October 2017: Acta Medica Iranica
https://www.readbyqxmd.com/read/29184813/disorders-differences-of-sex-development-dsds-for-primary-care-the-approach-to-the-infant-with-ambiguous-genitalia
#18
REVIEW
Justin A Indyk
The initial management of the neonate with ambiguous genitalia can be a very stressful and anxious time for families, as well as for the general practitioner or neonatologist. A timely approach must be sensitive and attend to the psychosocial needs of the family. In addition, it must also effectively address the diagnostic dilemma that is frequently seen in the care of patients with disorders of sex development (DSDs). One great challenge is assigning a sex of rearing, which must take into account a variety of factors including the clinical, biochemical and radiologic clues as to the etiology of the atypical genitalia (AG)...
October 2017: Translational Pediatrics
https://www.readbyqxmd.com/read/29176024/how-often-are-clinicians-performing-genital-exams-in-children-with-disorders-of-sex-development
#19
Stefani S Tica, Erica A Eugster
BACKGROUND: We sought to determine the frequency with which genital exams (GEs) are performed in children with disorders of sex development (DSD) and ambiguous genitalia (AG) during routine visits to the pediatric endocrine clinic. METHODS: Medical records of children with DSD and AG seen at one large academic center since 2007 were reviewed. Data analyzed included diagnosis, sex of rearing, age, initial or follow up visit, number of individuals present and sex of the pediatric endocrinologist...
November 27, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29157626/risk-association-of-congenital-anomalies-in-patients-with-ambiguous-genitalia-a-22-year-single-center-experience
#20
Jennifer M Heeley, Abby S Hollander, Paul F Austin, Diane F Merritt, Victoria G Wesevich, Ina E Amarillo
BACKGROUND: Ambiguous genitalia refers to a form of differences of sex development (DSD) wherein the appearance of the external genitalia is atypical. This rare condition presents challenges in decision-making and clinical management. Review of historical data may reveal areas for clinical research to improve care for patients with ambiguous genitalia. OBJECTIVE: This chart review was performed to identify patients with ambiguous genitalia, and to classify them as having 46,XX DSD, 46,XY DSD, or sex chromosome DSD...
November 17, 2017: Journal of Pediatric Urology
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