scholarly journals ANDROLOGY EXAMINATION OF PATIENTS WITH PANCREATIC-SUFFICIENT AND PANCREATIC-INSUFFICIENT CYSTIC FIBROSIS

2018 ◽  
Vol 19 (2) ◽  
pp. 31-39 ◽  
Author(s):  
S. A. Repina ◽  
S. A. Krasovsky ◽  
R. V. Rozhivanov ◽  
T. M. Sorokina ◽  
L. V. Shileiko ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Vas Deferens ◽  
Morphological Changes ◽  
Gene Mutations ◽  
Seminal Vesicles ◽  
Semen Parameters ◽  
Monogenic Disease ◽  
Obstructive Azoospermia ◽  
Clinical Form ◽  
Male Patients

Introduction. Cystic fibrosis (CF) is common monogenic disease resulted from CFTR gene mutations. A most of CF male patients are infertile due to the obstructive azoospermia, however, the mechanisms of the reduced fertility in male patients without the obstruction of seminal ducts, also as the influence of CFTR genotype on their development is understudied.Objectiveis to assess an influence the effect of CFTR genotype, clinical form of CF and age on men reproductive system organs, fertility, and testosterone level and semen parameters in male patients with CF. Materials and methods. We examined 71 Russian men (17–39 years old, mean 24.9 ± 5.3) with CF (pancreatic-sufficient, n = 34, and pancreatic-insufficient, n = 37). Clinical, andrology, laboratory and instrumental examination, including scrotal ultrasonography, biochemical semen, and hormonal analyses were performed.Results. Testicular hypoplasia was reveled in 40,5 % CF patients. Diffuse alterations of epididymis, of epididymal and/or testicular cysts were detected in 62 % patients; 10 % of the patients presented symptoms of hypogonadism. As many as 88 % patients showed spermiological signs of bilateral obstruction of seminal ducts at the level of the vas deferens and epididymis, aplasia of the seminal vesicles (azoospermia, oligospermia, low pH and fructose level of the ejaculate). Pancreatic-insufficient CF is an unfavorable prognostic sign for the obstruction of vas deferens, morphological changes in the scrotum. Patients until 25 years (23 %) as 3849+10kb C>T mutation’s carriers (72 %) significantly more frequently presented preserved vas deferens.Conclusion. Pancreatic-sufficient CF, young age and 3849+10kbС>T mutation are favorable factors presented preserved vas deferens and the possible fertility in men with CF. 

CONGENITAL ABSENCE OF THE VAS DEFERENS: INCOMPLETE PENETRANCE OF CYSTIC FIBROSIS GENE MUTATIONS

1997 ◽  
Vol 158 (5) ◽  
pp. 1794-1799 ◽  
Author(s):  
David Shin ◽  
Fred Gilbert ◽  
Marc Goldstein ◽  
Peter N. Schlegel
Keyword(s):  
Cystic Fibrosis ◽  
Vas Deferens ◽  
Gene Mutations ◽  
Congenital Absence ◽  
Cystic Fibrosis Gene ◽  
Incomplete Penetrance

Cystic Fibrosis Manifested as Undescended Testis and Absence of Vas Deferens

PEDIATRICS ◽  
1992 ◽  
Vol 90 (6) ◽  
pp. 982-983
Author(s):  
RAN GOSHEN ◽  
EITAN KEREM ◽  
TZIPORA SHOSHANI ◽  
BAT-SHEVA KEREM ◽  
ELAD FEIGIN ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Autosomal Recessive ◽  
Undescended Testis ◽  
Vas Deferens ◽  
Pancreatic Insufficiency ◽  
European Ancestry ◽  
Inherited Disease ◽  
Musculoskeletal Problems ◽  
Male Patients ◽  
Almost All

Cystic fibrosis (CF) is the most common autosomal recessive inherited disease in whites. Among whites of European ancestry, approximately 1 in 2000 live births are affected, implying a carrier frequency of 1:25.1 The disease is characterized by chronic lung disease, which usually leads to the patient's death. Furthermore, patients with CF suffer from pancreatic insufficiency and other less common manifestations, such as meconium ileus, hepatobiliary abnormalities, diabetes mellitus, and musculoskeletal problems.1 Almost all males with CF are infertile. Absence of the vas deferens has been reported in 70% to more than 90% of male patients affected by CF.2 Although 4% of full-term male neonates have un-descended testes at birth, 0.8% to 1.0% of 1-year-old boys have cryptorchism and may be subjected to a later surgical intervention.3

scholarly journals Cystic Fibrosis Disease Modifiers: Complex Genetics Defines the Phenotypic Diversity in a Monogenic Disease

2018 ◽  
Vol 19 (1) ◽  
pp. 201-222 ◽  
Author(s):  
Wanda K. O'Neal ◽  
Michael R. Knowles
Keyword(s):  
Cystic Fibrosis ◽  
Phenotypic Diversity ◽  
Association Studies ◽  
Gene Mutations ◽  
Monogenic Disease ◽  
Genome Wide Association Studies ◽  
Complex Genetics ◽  
Genetic Components ◽  
Significant Gene ◽  
Gene Expression Studies

In many respects, genetic studies in cystic fibrosis (CF) serve as a paradigm for a human Mendelian genetic success story. From recognition of the condition as a heritable pathological entity to implementation of personalized treatments based on genetic findings, this multistep pathway of progress has focused on the genetic underpinnings of CF clinical disease. Along this path was the recognition that not all CFTR gene mutations produce the same disease and the recognition of the complex, multifactorial nature of CF genotype–phenotype relationships. The non- CFTR genetic components (gene modifiers) that contribute to variation in phenotype are the focus of this review. A multifaceted approach involving candidate gene studies, genome-wide association studies, and gene expression studies has revealed significant gene modifiers for multiple CF phenotypes. The bold challenges for the future are to integrate the findings into our understanding of CF pathogenesis and to use the knowledge to develop novel therapies.

scholarly journals The value of ultrasound in diagnosis of male infertility

2004 ◽  
Vol 57 (11-12) ◽  
pp. 551-555
Author(s):  
Sanja Stojanovic ◽  
Mira Govorcin ◽  
Dusan Hadnadjev ◽  
Goran Marusic ◽  
Slavica Senicar ◽  
...  
Keyword(s):  
Male Infertility ◽  
Vas Deferens ◽  
Ultrasound Examination ◽  
Color Doppler ◽  
Transrectal Ultrasound ◽  
Testicular Atrophy ◽  
Obstructive Azoospermia ◽  
Pathological Conditions ◽  
Common Causes ◽  
Male Patients

Introduction The number of male patients with clinical presentation of infertility, especially secondary infertility after infections, is increasing every day. Contemporary urological standards in defining male infertility include ultrasound examination. Ultrasound examination of the scrotum using color doppler is of great importance. Diagnosis of male infertility Testicular atrophy, microlithiasis and varicocele are the most common causes of male infertility. Microlithiasis and classical testicular microlithiasis are not directly associated with infertility. Gray scale sonography is used in evaluation of the dilatation of the testicular veins, but color Doppler made a real contribution in revealing subclinical varicocele. Transrectal ultrasound is used in a number of pathological conditions of prostate, seminal vesicles and ducts. In cases of obstructive azoospermia it is important to find out the cause, such as focal prostatitis, cysts, ejaculatory ducts obstruction or absence of vas deferens. Conclusion UIltrasound is a noninvasive method easy to perform, which provides information without postexamination consequences such as strictures or obstructions, which are possible after invasive deferentography. Ultrasound guided biopsy, provides a new minimally invasive diagnostic tool in current urology.

scholarly journals R-096. Cystic fibrosis gene mutations do not affect ICSI outcome in men with congenital absence of the vas deferens

1997 ◽  
Vol 12 (Suppl_2) ◽  
pp. 277-278
Author(s):  
J.L.I. Romero ◽  
Y. Mínguez ◽  
C. Rubio ◽  
A. Ruiz ◽  
M.D. Molero ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Vas Deferens ◽  
Gene Mutations ◽  
Congenital Absence ◽  
Cystic Fibrosis Gene
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