OBJECTIVE: To investigate the clinical features and genetic etiology of a case of Kartagener syndrome with obstructive azoospermia (KS-OAS). METHODS: We collected the clinical data and results of examinations of a male infertility patient treated in the Women and Children's Hospital Affiliated to Xiamen University. We analyzed the genetic etiology of the patient by high-throughput sequencing and bioinformatics, verified the pathogenic variants of CCDC114 by Sanger sequencing of the family members, and determined the protein expression of CCDC114 in normal subjects by immunohistochemistry and immunofluorescence staining. RESULTS: The patient was confirmed with KS-OAS, and found with biallelic variation of CCDC114 (c.71-2A>C, c.816_817insGCAG) by sequencing, which were inherited from father and mother, respectively. According to the American College of Medical Genetics and Genomics (ACMG) guidelines, the variants were pathogenic. Two offspring were obtained by intracytoplasmic sperm injection (ICSI). CONCLUSION The above findings have broadened the variation spectrum of the CCDC114, and provided some new ideas for genetic and assisted reproduction counseling for patients with Kartagener syndrome. The variation of CCDC114 does not affect the pregnancy outcome of ICSI.
Adult ; Humans ; Male ; Azoospermia/genetics* ; Kartagener Syndrome/complications* ; Mutation ; Sperm Injections, Intracytoplasmic

A case of a papillary thyroid carcinoma in a patient with situs inversus with associated bronchiectasis and chronic sinusitis (Kartagener's syndrome) is reported. A 61-year-old male patient has the symptoms of nasal obstruction. nasal purulent discharge and headache for 2 years. Physical examination: right nasal purulent in right nasal cavity and multiple lychee-like opaque mass in right middle meatus. A nodule, one centimeter in diameter, locates in the upper pole of right thyroid. Evidence of full situs inversus viscerum can be confirmmed by chest radiographs and ultrasound doppler. Pathology: right nasal polyps, the right small papillary thyroid cancer. TEM Tip primary ciliary dyskinesia. Clinical diagnosis: Kartagener syndrome, papillary thyroid carcinoma (T1a N0 M0, I period), chronic sinusitis-nasal polyps.
Carcinoma ; complications ; diagnosis ; Carcinoma, Papillary ; Chronic Disease ; Humans ; Kartagener Syndrome ; complications ; diagnosis ; Male ; Middle Aged ; Nasal Obstruction ; pathology ; Nasal Polyps ; pathology ; Radiography, Thoracic ; Rhinitis ; pathology ; Sinusitis ; pathology ; Situs Inversus ; pathology ; Thyroid Cancer, Papillary ; Thyroid Neoplasms ; complications ; diagnosis