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ambiguous genitalia

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https://www.readbyqxmd.com/read/29355488/smith-lemli-opitz-syndrome-in-a-newborn-infant-with-developmental-abnormalities-and-low-endogenous-cholesterol
#1
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 decrease 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 was diagnosed 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...
January 16, 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
#2
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...
January 12, 2018: 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
#3
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...
January 11, 2018: 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
#4
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...
December 13, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/29232631/ambiguous-genitalia-a-social-dilemma-in-bangladesh-a-case-report
#5
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...
December 8, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29228532/pericentric-inversion-of-chromosome-9-in-an-infant-with-ambiguous-genitalia
#6
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
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/29036646/de-novo-deleterious-sequence-variants-that-alter-the-transcriptional-activity-of-the-homeoprotein-pbx1-are-associated-with-intellectual-disability-and-pleiotropic-developmental-defects
#10
Anne Slavotinek, Maurizio Risolino, Marta Losa, Megan T Cho, Kristin G Monaghan, Dina Schneidman-Duhovny, Sarah Parisotto, Johanna C Herkert, Alexander P A Stegmann, Kathryn Miller, Natasha Shur, Jacqueline Chui, Eric Muller, Suzanne DeBrosse, Justin O Szot, Gavin Chapman, Nicholas S Pachter, David S Winlaw, Bryce A Mendelsohn, Joline Dalton, Kyriakie Sarafoglou, Peter I Karachunski, Jane M Lewis, Helio Pedro, Sally L Dunwoodie, Licia Selleri, Joseph Shieh
We present eight patients with de novo, deleterious sequence variants in the PBX1 gene. PBX1 encodes a three amino acid loop extension (TALE) homeodomain transcription factor that forms multimeric complexes with TALE and HOX proteins to regulate target gene transcription during development. As previously reported, Pbx1 homozygous mutant mice (Pbx1-/-) develop malformations and hypoplasia or aplasia of multiple organs, including the craniofacial skeleton, ear, branchial arches, heart, lungs, diaphragm, gut, kidneys, and gonads...
September 22, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29033614/fusion-of-lower-limbs-with-severe-urogenital-malformation-in-a-newborn-a-rare-congenital-clinical-syndrome-case-report
#11
Fatemah Al Hadhoud, Abeer H Kamal, Abdulmohsen Al Anjari, Michael Fe Diejomaoh
BACKGROUND: Fused lower limbs combined with severe urogenital malformation, also known as sirenomelia, is a rare congenital clinical syndrome. The etiology is unknown, and the outcome for the affected fetus is rather uncertain. CASE REPORT: Mrs RB, a Kuwaiti woman primigravida, married to a non-consanguineous husband, had uneventful antenatal care in a private health service, until she was admitted to the Maternity Hospital, Kuwait, at 31 weeks of gestation with a 3-hour history of ruptured membranes...
2017: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/29022558/klinefelter-syndrome-in-childhood-variability-in-clinical-and-molecular-findings
#12
Neşe Akcan, Şükran Poyrazoğlu, Firdevs Baş, Rüveyde Bundak, Feyza Darendeliler
OBJECTIVE: Klinefelter syndrome (KS) is the most common (1/500-1/1000) chromosomal disorder in males, but only 10% of cases are identified in childhood. This study aimed to review the data of the children with KS to assess the age and reason for diagnosis, clinical and laboratory findings, as well as the presence of comorbidities. METHODS: Twenty-three KS patients were analyzed retrospectively. Age at admission, presenting symptoms, comorbid problems, height, weight, pubertal status, biochemical findings, hormone profiles, bone mineral density, and karyotype were evaluated...
October 12, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29019745/imaging-of-nonmalignant-adrenal-lesions-in-children
#13
Kiran M Sargar, Geetika Khanna, Rebecca Hulett Bowling
The adrenal glands in children can be affected by a variety of benign lesions. The diagnosis of adrenal lesions can be challenging, but assessment of morphologic changes in correlation with the clinical presentation can lead to an accurate diagnosis. These lesions can be classified by their cause: congenital (eg, discoid adrenal gland, horseshoe adrenal gland, and epithelial cysts), vascular and/or traumatic (eg, adrenal hemorrhage), infectious (eg, granulomatous diseases), enzyme deficiency disorders (eg, congenital adrenal hyperplasia [CAH] and Wolman disease), benign neoplasms (eg, pheochromocytomas, ganglioneuromas, adrenal adenomas, and myelolipomas), and adrenal mass mimics (eg, extralobar sequestration and extramedullary hematopoiesis)...
October 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28920018/neonatal-sex-assignment-in-disorders-of-sex-development-a-philosophical-introspection
#14
REVIEW
V Raveenthiran
Management of ambiguous genitalia is highly controversial. This condition was known previously as intersex and presently as disorders of sex development (DSD). There is no consensus regarding the choice, timing and method of sex assignment in neonates with DSD. Consensus conferences could not unify the views of various stakeholders and third parties. This article philosophically examines the nature and origin of such controversies. Misconception, bias and conflicting priorities are identified as the three cardinal sources of controversies...
July 2017: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/28917585/total-urogenital-sinus-mobilization-for-ambiguous-genitalia
#15
Vinicius Menezes Jesus, Francisco Buriti, Rodrigo Lessa, Maria Betânia Toralles, Luciana Barros Oliveira, Ubirajara Barroso
INTRODUCTION: Genital ambiguity is a very common phenomenon in disorders of sex development (DSD). According to the Chicago Consensus 2006, feminizing genitoplasty, when indicated, should be performed in the most virilized cases (Prader III to V). Advances in the knowledge of genital anatomy in DSD have enabled the development and improvement of various surgical techniques. Mobilization of the urogenital sinus (MUS), first described by Peña, has become incorporated by most surgeons. However, the proximity of the urethral sphincter prompts concern over urinary incontinence, especially for full mobilization of the urogenital sinus...
August 24, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28870780/mutational-analysis-of-rare-subtypes-of-congenital-adrenal-hyperplasia-in-a-highly-inbred-population
#16
Meshael M Alswailem, Ohoud S Alzahrani, Doha S Alhomaidah, Rahma Alasmari, Ebtesam Qasem, Avaniyapuram Kannan Murugan, Afaf Alsagheir, Imad Brema, Bassam Ben Abbas, Mohammed Almehthel, Ali Almeqbali, Ali S Alzahrani
CONTEXT: Apart from 21 Hydroxylase deficiency, other subtypes of congenital adrenal hyperplasia (CAH) are rare. We studied the clinical features and molecular genetics of a relatively large series of patients with CYP17A1, HSD3β2 and StAR deficiencies. PATIENTS AND METHODS: We studied 21 patients including 7 patients with CYP17A1, 10 patients with HSD3β2 and 4 patients with StAR deficiencies. For mutation detection, we isolated DNA from peripheral leucocytes, amplified genes of interest using polymerase chain reaction and directly sequenced the amplicons using Dideoxy Chain Termination method...
September 6, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28859874/biochemical-analysis-of-four-missense-mutations-in-the-hsd17b3-gene-associated-with-46-xy-disorders-of-sex-development-in-egyptian-patients
#17
Roger T Engeli, Maria Tsachaki, Heba A Hassan, Christoph P Sager, Mona L Essawi, Yehia Z Gad, Alaa K Kamel, Inas Mazen, Alex Odermatt
BACKGROUND: Mutations in the HSD17B3 gene are associated with a 46,XY disorder of sexual development (46,XY DSD) as a result of low testosterone production during embryogenesis. AIM: To elucidate the molecular basis of the disorder by chemically analyzing four missense mutations in HSD17B3 (T54A, M164T, L194P, G289S) from Egyptian patients with 46,XY DSD. METHODS: Expression plasmids for wild-type 17β-hydroxysteroid hydrogenase type 3 (17β-HSD3) and mutant enzymes generated by site-directed mutagenesis were transiently transfected into human HEK-293 cells...
September 2017: Journal of Sexual Medicine
https://www.readbyqxmd.com/read/28760128/analysis-of-musculoskeletal-dysmorphic-abnormalities-of-20-fetuses
#18
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
#19
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
#20
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
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