From a reproductive specialist to a pulmonologist, or a Long path to diagnosis: clinical observations
https://doi.org/10.18093/0869-0189-2025-35-2-269-275
Abstract
Diagnosis of many inherited diseases, particularly primary ciliary dyskinesia and cystic fibrosis (CF), remains inadequate. These diseases are often detected late in the course of infertility evaluation.
The aim is to describe two clinical observations of male infertility with late detection of hereditary respiratory tract diseases.
Methods. Two male patients, aged 33 and 32 years, with primary marital infertility due to total or subtotal asthenoteratozoospermia were studied. A comprehensive clinical examination, CT of the chest and paranasal sinuses, standard spermatological examination, electron microscopic examination of spermatozoa and nasal epithelial cells, CFTR gene sequencing, whole exome sequencing, and direct automated Sanger sequencing were performed.
Results. Based on the results of a comprehensive genetic, pulmonological, andrological, and electron microscopic examination, both patients were diagnosed with autosomal recessive monogenic diseases associated with respiratory damage and primary male infertility. The patient with total asthenoteratozoospermia was diagnosed with primary ciliary dyskinesia (PCD) associated with probable pathogenic variants in the DRC1 gene, while the patient with obstructive azoospermia was diagnosed with a pancreatic-insufficient of cystic fibrosis caused by two pathogenic variants in the CFTR gene.
Conclusion. The presented clinical cases demonstrate a prolonged diagnostic search in patients associated with an unpronounced clinical picture, lack of detailed anamnesis and appropriate investigations.
Keywords
axoneme,
cilium,
flagellum,
spermatogenesis,
asthenoteratozoospermia,
primary ciliary dyskinesia,
whole exome sequencing
Supporting agencies: The study was carried out as part of the research project “Complex analysis of genophenotypic correlations in cystic fibrosis and primary ciliary dyskinesia” (registration number 122032300396-1)
About the Authors
V. B. Chernykh
Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation; Federal State Autonomous Educational Institution of Higher Education “N.I.Pirogov Russian National Research Medical University” of the Ministry of Health of the Russian Federation
Russian Federation
Competing Interests:
Russian Federation
Vyacheslav B. Chernykh, Doctor of Medicine, Head of the Laboratory, r of Medicine, Head of the Laboratory, Professor, Professor of the Department
Laboratory of Genetics of Reproductive Disorders; Institute of Higher and Further Professional Education; Department of Endocrine Diseases; Faculty of Medical Biology; Department of General and Medical Genetics
115522; ul. Moskvorechye 1; 117997; ul. Ostrovityanova 1; Moscow
Competing Interests:
The authors did not declare any conflicts of interests
Yu. L. Melyanovskaya
Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation; State Budgetary Healthcare Institution of the Moscow region “Research Clinical Institute of Childhood”, Healthcare Ministry of Moscow Region
Russian Federation
Competing Interests:
Russian Federation
Yuliya L. Melyanovskaya, Researcher
Scientific and Clinical Department of Cystic Fibrosis
115522; ul. Moskvorechye 1; Moscow; 141009; ul. Kominterna
124A, build. 1; Moskovskaya obl.; Mytishchi
tel.: (495) 324-20-24
Competing Interests:
The authors did not declare any conflicts of interests
T. A. Kyian
Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation; State Budgetary Healthcare Institution of the Moscow region “Research Clinical Institute of Childhood”, Healthcare Ministry of Moscow Region
Russian Federation
Competing Interests:
Russian Federation
Tatiana A. Kyian, Candidate of Medicine, Senior Researcher, Head of the Center
Scientific and Clinical Department of Cystic Fibrosis; Cystic Fibrosis Center
115522; ul. Moskvorechye 1; Moscow; 141009; ul. Kominterna 124A, build. 1; Moskovskaya obl.; Mytishchi
tel.: (499) 324-15-01
Scopus ID: 57205414678
Competing Interests:
The authors did not declare any conflicts of interests
E. E. Bragina
Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation; Federal State Budget Educational Institution of Higher Education M.V.Lomonosov Moscow State University, The Government of the Russian Federation
Russian Federation
Competing Interests:
Russian Federation
Elizaveta E. Bragina, Doctor of Biology, Leading Researcher, Senior Researcher
Laboratory of genetics of reproductive disorders; Department of Electron Microscopy
115522; ul. Moskvorechye 1; 119992; Leninskye gory 1, build. 40; Moscow
tel.: (495) 939-53-59
Competing Interests:
The authors did not declare any conflicts of interests
O. A. Solovova
Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation
Russian Federation
Competing Interests:
Russian Federation
Olga A. Solovova, Researcher
Laboratory of Genetics of Reproductive Disorders
115522; ul. Moskvorechye 1; Moscow
tel.: (499) 324-13-20
Scopus ID: 57214879230
Competing Interests:
The authors did not declare any conflicts of interests
E. I. Kondratyeva
Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation; State Budgetary Healthcare Institution of the Moscow region “Research Clinical Institute of Childhood”, Healthcare Ministry of Moscow Region
Russian Federation
Competing Interests:
Russian Federation
Elena I. Kondratyeva, Doctor of Medicine, Professor, Head of the Department, Head of the Center
Scientific and Clinical Department of cystic fibrosis; Institute of Higher and Additional Professional Education; Department of Genetics of Respiratory System Diseases; Cystic Fibrosis Center
115522; ul. Moskvorechye 1; Moscow; 141009; ul. Kominterna
124A, build. 1; Moskovskaya obl.; Mytishchi
tel.: (495) 111-03-03
Competing Interests:
The authors did not declare any conflicts of interests
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For citations:
Chernykh V.B., Melyanovskaya Yu.L., Kyian T.A., Bragina E.E., Solovova O.A., Kondratyeva E.I. From a reproductive specialist to a pulmonologist, or a Long path to diagnosis: clinical observations. PULMONOLOGIYA. 2025;35(2):269-275. (In Russ.) https://doi.org/10.18093/0869-0189-2025-35-2-269-275
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