Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. [PDF]
Autosomal recessive mutations in the 17 beta-hydroxysteroid dehydrogenase 3 gene impair the formation of testosterone in the fetal testis and give rise to genetic males with female external genitalia.
Andersson, Stefan +14 more
core +1 more source
One-stage Closure of the Small Non-growing Bladder Plate: New Insight into the Anatomy of Exstrophy - Trapezoid Interpubic Ligament (TIPL) [PDF]
Purpose: The purpose of this study is to examine whether retrovesical fibromuscular structures—specifically the trapezoid interpubic ligament (TIPL)—mechanically restrict the inversion of small, non-growing bladder plates (SNGBP) in bladder exstrophy ...
Vasily V. Nikolaev, Nikita V. Demin
doaj +1 more source
Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes [PDF]
Syndromic primary immunodeficiencies are rare genetic disorders that affect both the immune system and other organ systems. More often, the immune defect is not the major clinical problem and is sometimes only recognized after a diagnosis has been made ...
Bogaert, Delfien +13 more
core +2 more sources
Background: Renal agenesis is a congenital malformation that occurs due to the inhibition of metanephric blastema induction due to a decrease in ureteric bud activity.
Jae Joon Park +8 more
doaj +1 more source
Urogenital abnormalities and atresia of the gastrointestinal tract
Introduction. The goal of the study was to investigate the frequency of urogenital congenital abnormalities among atresias of the digestive system and analyze fetal maldevelopment. The study also deals with gastrointestinal and urogenital embryology. Material and methods. This retrospektive study analyzed the clinical status of 55 new-borns admitted to
Dusanka Dobanovacki +5 more
openaire +3 more sources
Isolated Fetal Ascites Secondary to Persistent Urogenital Sinus
Objective. To present a case of isolated ascites secondary due to urogenital abnormalities (urogenital sinus) without any other prenatal ultrasound marker. Method. A 36-year-old woman with prenatal isolated ascites delivered a female baby, weighing 2.285
D. Camanni +6 more
doaj +1 more source
Periodontal diseases and adverse pregnancy outcomes. Present and future
Abstract For more than two decades the possible association between periodontal diseases and adverse pregnancy outcomes has been extensively evaluated. Numerous observational, intervention, and mechanistic studies have offered valuable information on this topic.
Yiorgos A. Bobetsis +3 more
wiley +1 more source
: In urology, urogenital disorders include all male and female urinary tract and male genital organ abnormalities. These disorders can be an infections, blockages due to foreign bodies, dysfunction due to pathological or degenerative processes, trauma ...
Bayu Saputera, Heru Prasetya
doaj +1 more source
Compensatory Hypertrophy in Paediatric Patients with a Unilateral Ureteropelvic Junction Obstruction
Background: Compensatory hypertrophy is common in children with solitary functioning kidney, but it is unknown whether it also develops in children with unilateral partial reduction of kidney function.
Sander Groen in 't Woud +9 more
doaj +1 more source
Multiple urogenital abnormalities in a Persian cat
A 1.5-year-old female Persian cat was presented for inappetence and azotemia. Ultrasonography and urography revealed multiple abnormalities involving the genitourinary tract, including agenesis of the right kidney and ureter. Gross examination of the abnormal uterus revealed segmental aplasia of right caudal uterine horn causing cranial distension ...
Moon-Jung, Goo +9 more
openaire +2 more sources

