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Genital malformation

Emily May Lent, Lee C B Crouse, Allison M Jackovitz, Erica E Carroll, Mark S Johnson
Nitrotriazolone (1,2,4-triazol-5-one; NTO), an insensitive, energetic material used in explosive formulations, induced testicular toxicity and oligospermia in repeated-dose oral toxicity tests in rats. To evaluate whether NTO produces additional reproductive and developmental effects, a modified extended one-generation reproductive toxicity test was conducted. Rats were provided ad libitum access to NTO in drinking water at 0-, 144-, 720-, or 3600-mg/L NTO. Treatment of the parental generation began 2 (females) and 4 (males) wk premating and continued until weaning of litters...
October 18, 2016: Journal of Toxicology and Environmental Health. Part A
Guang-Han Wang, Lan Zhu, Ai-Ming Liu, Tao Xu, Jing-He Lang
BACKGROUND: Female genital malformations represent miscellaneous deviations from normal anatomy. This study aimed to explore the clinical characteristics of patients who underwent surgery for genital tract malformations at Peking Union Medical College Hospital (PUMCH) during a 31-year period. METHODS: We retrospectively reviewed surgical cases of congenital malformation of the female genital tract at PUMCH for a 31-year period, analyzed the clinical characteristics of 1634 hospitalized patients, and investigated their general condition, diagnosis, and treatment process...
2016: Chinese Medical Journal
F Belva, M Bonduelle, M Roelants, D Michielsen, A Van Steirteghem, G Verheyen, H Tournaye
STUDY QUESTION: What is the semen quality of young adult men who were conceived 18-22 years ago by ICSI for male infertility? SUMMARY ANSWER: In this cohort of 54 young adult ICSI men, median sperm concentration, total sperm count and total motile sperm count were significantly lower than in spontaneously conceived peers. WHAT IS KNOWN ALREADY: The oldest ICSI offspring cohort worldwide has recently reached adulthood. Hence, their reproductive health can now be investigated...
October 5, 2016: Human Reproduction
Pentti K Heinonen
OBJECTIVE: This study assessed the distribution of Müllerian duct anomalies in two verified classifications of female genital tract malformations, and the presence of associated renal defects. STUDY DESIGN: 621 women with confirmed female genital tract anomalies were retrospectively grouped under the European (ESHRE/ESGE) and the American (AFS) classification. The diagnosis of uterine malformation was based on findings in hysterosalpingography, two-dimensional ultrasonography, endoscopies, laparotomy, cesarean section and magnetic resonance imaging in 97...
September 20, 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
Emir Tas, Jessica Sebastian, Suneeta Madan-Khetarpal, Philip Sweet, Alexander N Yatsenko, Nijole Pollock, Aleksandar Rajkovic, Francis X Schneck, Svetlana A Yatsenko, Selma Feldman Witchel
Hand-Foot-Genital syndrome is a rare autosomal dominant condition characterized by distal limb anomalies and urogenital malformations. This disorder is associated with loss-of-function mutations in the HOXA13 gene. HOXA13 plays an important role in the development of distal limbs and lower genitourinary tract of the fetus. We report a novel familial 589 kb deletion in the 7p15.2 region identified in a male toddler and his mother. The proband had severe penoscrotal hypospadias, mild skeletal anomalies of the hands and feet, cardiac, renal, and gastrointestinal anomalies...
September 20, 2016: American Journal of Medical Genetics. Part A
Steven Nisticò, Piero Campolmi, Silvia Moretti, Ester Del Duca, Nicola Bruscino, Rossana Conti, Andrea Bassi, Giovanni Cannarozzo
Flash-lamp pulsed-dye laser (FPDL) is a nonablative technology, typically used in vascular malformation therapy due to its specificity for hemoglobin. FPDL treatments were performed in a large group of patients with persistent and/or recalcitrant different dermatological lesions with cutaneous microvessel involvement. In particular, 149 patients (73 males and 76 females) were treated. They were affected by the following dermatological disorders: angiokeratoma circumscriptum, genital and extragenital viral warts, striae rubrae, basal cell carcinoma, Kaposi's sarcoma, angiolymphoid hyperplasia, and Jessner-Kanof disease...
2016: BioMed Research International
Katariina Vapalahti, Anna-Maija Virtala, Tara A Joensuu, Katriina Tiira, Jaana Tähtinen, Hannes Lohi
A comprehensive feline health survey was conducted to reveal breed-specific inheritable diseases in Finnish pedigree cats for genetic research. Prevalence of 19 disease categories and 227 feline diseases were defined in a study population of 8175 cats belonging to 30 breeds. Dental and oral diseases, with a prevalence of 28%, and dental calculus and gingivitis (21 and 8%, respectively) were the most prevalent disease category and diseases among all cats and in most of the breeds. An exception was Korats, which were more often affected by the diseases of the respiratory tract (23%) and asthma (19%)...
2016: Frontiers in Veterinary Science
R El-Khairi, L Vallier
Heterozygous mutations in the gene that encodes the transcription factor hepatocyte nuclear factor 1β (HNF1B) result in a multi-system disorder. HNF1B was initially discovered as a monogenic diabetes gene; however, renal cysts are the most frequently detected feature. Other clinical features include pancreatic hypoplasia and exocrine insufficiency, genital tract malformations, abnormal liver function, cholestasis and early-onset gout. Heterozygous mutations and complete gene deletions in HNF1B each account for approximately 50% of all cases of HNF1B-associated disease and may show autosomal dominant inheritance or arise spontaneously...
September 2016: Diabetes, Obesity & Metabolism
Hideharu Hashimoto, Xing Zhang, Yu Zheng, Geoffrey G Wilson, Xiaodong Cheng
Mutations in human zinc-finger transcription factor WT1 result in abnormal development of the kidneys and genitalia and an array of pediatric problems including nephropathy, blastoma, gonadal dysgenesis and genital discordance. Several overlapping phenotypes are associated with WT1 mutations, including Wilms tumors, Denys-Drash syndrome (DDS), Frasier syndrome (FS) and WAGR syndrome (Wilms tumor, aniridia, genitourinary malformations, and mental retardation). These conditions vary in severity from individual to individual; they can be fatal in early childhood, or relatively benign into adulthood...
September 4, 2016: Nucleic Acids Research
Carlo Pavone, Marco Vella, Dario Fontana, Cristina Scalici Gesolfo, Sebastiano Oieni, Francesca Toia, Adriana Cordova
We report a case of a woman affected by covered exstrophy, uterus didelphys and external genital malformation presenting with advanced bladder cancer. After neoadjuvant therapy and anterior pelvic exenteration, the abdominal wall was reconstructed with a pedicled myocutaneous muscle-sparing vastus lateralis flap.
2016: Case Reports in Plastic Surgery & Hand Surgery
Nicolas Fernandez, Rebeca Escobar, Ignacio Zarante
INTRODUCTION: Hypospadias is a congenital abnormality of the penis, in which there is incomplete development of the distal urethra. There are numerous reports showing na increase of prevalence of hypospadias. Association of craniofacial malformations in patients diagnosed with hypospadias is rare. The aim of this study is to describe the association between hypospadias and craniofacial congenital anomalies. MATERIALS AND METHODS: A retrospective review of the Latin-American collaborative study of congenital malformations (ECLAMC) data was performed between January 1982 and December 2011...
July 2016: International Braz J Urol: Official Journal of the Brazilian Society of Urology
Ozlem Dural, Funda Gungor Ugurlucan, Cenk Yasa, Ercan Bastu, Hulya Eren, Bahar Yuksel, Serdal Celik, Suleyman Engin Akhan
BACKGROUND: Isolated distal vaginal agenesis is a rare anomaly and mostly becomes symptomatic after menarche. We describe an unusual presentation of this anomaly in a prepubertal girl. CASE: An 11-year-old prepubertal girl presented with recurrent urinary tract infection, pyuria, and right-sided renal agenesis. The findings of perineal inspection, ultrasonography, and magnetic resonance imaging were consistent with a distal vaginal agenesis with pyometrocolpos. Discharging pyometrocolpos with dissection of the atretic portion and a pull-through vaginoplasty were performed...
August 20, 2016: Journal of Pediatric and Adolescent Gynecology
Małgorzata M Dobrzyńska
UNLABELLED: The general exposure to endocrine disruptors, including phthalates, is considered as one of the reason diminished sperm count and deteriorated sperm quality, which may lead to infertility and higher incidence of congenital malformations of the genital tract. This article describes the effects of selected phthalates di(2-ethylhexyl)phthalate (DEHP), dibutyl phthalate (DBP); butylbenzyl phthalate (BBP), diethyl phthalate (DEP), di-isononyl phthalate (DINP) on the male gametes, reproduction and the offspring of exposed animals...
2016: Roczniki Państwowego Zakładu Higieny
Marco Stieger, Robert E Hunger
BACKGROUND: Gorlin syndrome, also known as the basal cell nevus syndrome (OMIM #109400), is a rare autosomal-dominant genetic disease. The disease, which shows mutation of the patched receptor gene (PTCH1) of the sonic hedgehog pathway, is characterized by developing multiple basal cell carcinomas (BCCs) in adolescent patients. Other clinical features include mandibular keratocysts, palmar and plantar pits, skeletal abnormalities and malformations central nervous system and genital tract...
2016: Dermatology: International Journal for Clinical and Investigative Dermatology
Gozde Ozcan, Burhan Balta, Ahmet Ercan Sekerci, Osman A Etoz, Claudia Martinuzzi, Ozlem Kara, Lorenza Pastorino, Fatma Kocoglu, Omer Ulker, Murat Erdogan
Gorlin-Goltz syndrome (GGS) is an uncommon autosomal dominant inherited disorder which comprises the triad of basal cell carcinomas (BCCs), odontogenic keratocysts, and musculoskeletal malformations. Besides this triad, neurological, ophthalmic, endocrine, and genital manifestations are known to be variable. It is occasionally associated with aggressive BCC and internal malignancies. This report documents a case of GGS with a novel mutation in the PTCH1 gene in an 11-year-old child. The clinical, radiographic, histopathologic and molecular findings of this condition, and treatment are described, and a review of GGS was carried out...
July 2016: Indian Journal of Pathology & Microbiology
Pedro Acién, Maribel Acién
UNLABELLED: To help physicians and radiologists in the diagnosis of female genito-urinary malformations, especially of complex cases, the embryology of the female genital tract, the basis for Müllerian development anomalies, the current classifications for such anomalies and the comparison for inclusion and cataloguing of female genital malformations are briefly reviewed. The use of the embryological system to catalogue female genito-urinary malformations may ultimately be more useful in correlations with clinical presentations and in helping with the appropriate diagnosis and treatment...
October 2016: Insights Into Imaging
Giorgia Totonelli, Francesco Morini, Vincenzo Davide Catania, Paolo Maria Schingo, Giovanni Mosiello, Paolo Palma, Barbara Daniela Iacobelli, Pietro Bagolan
PURPOSE: The present study aims to identify clinical and pathological factors that can predict the risk of spinal cord anomalies (SCA) in patients with anorectal malformations (ARM), the need for neurosurgery, and to define the impact of SCA on the outcome of patients with ARM. METHODS: A 16-year retrospective analysis of all patients treated at a single tertiary children's Hospital with diagnosis of ARM. Data were collected to assess the impact of defined clinical characteristics on prevalence of SCA (detected at MRI)...
August 2016: Pediatric Surgery International
Grażyna Jarząbek-Bielecka, Magdalena Pisarska-Krawczyk, Witold Kędzia, Małgorzata Mizgier, Zbigniew Friebe
The persistent or recurrent difficulties of the woman to allow vaginal entry of a penis, a finger, and/or any object, despite the woman's expressed wish to do so" is vaginismus. Early traumatic sexual experiences (e.g. sexual abuse), religious orthodoxy, low self-esteem and body image, negative attitudes about sexuality, lack of knowledge about sex and fear responses are some of the traditional etiological correlates of vaginismus. Vaginismus is largely a diagnosis of exclusion. An interview is crucial in differentiating the causes of this disease and it should involve the following key questions: -whether the contraction of the vaginal muscles was recorded from the first sexual contact and still remains a need for sexual satisfaction is achieved without relations vaginal or -symptom occurs for some time and what circumstances it bound or -contraction of the muscles is independent of the will, reflex and is at the very idea of sexual intercourse, and -that the contraction of the vaginal muscles occurs when you try to enter the member into the vagina which is very painful...
2016: Postȩpy Higieny i Medycyny Doświadczalnej
I Rübben
BACKGROUND: Through the completion of the first year of life, cryptorchidism is the most common genital malformation in pediatric urology; unilateral cryptorchidism is detected in about 1% of full-term male infants and a fifth (20%) of children are bilaterally affected. DISCUSSION: It must be understood that azoospemia affects about 10% of men with unilateral and about 32% of men with bilateral cryptorchidism and that approximately 10-20% of men, in whom infertility has been diagnosed, have a history of orchiopexy...
July 2016: Der Urologe. Ausg. A
Monica T Y Wong, Conny M A van Ravenswaaij-Arts, Craig F Munns, Peter Hsu, Sam Mehr, Gianni Bocca
OBJECTIVE: To evaluate whether central adrenal insufficiency (CAI) is present in CHARGE (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital hypoplasia, and Ear abnormalities, including deafness) syndrome, a complex malformation disorder that includes central endocrine dysfunction. STUDY DESIGN: Two cross-sectional studies were performed in Dutch (September 2013-February 2015) and Australian (January 2012-January 2014) CHARGE syndrome clinics...
September 2016: Journal of Pediatrics
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