Congenital pulmonary airway malformation associated with mosaic Klinefelter syndrome

Holubyeva, Anastasiya; Bracero, Luis A.; Feuerstein, J.; Bush, S.W.

doi:10.1002/jcu.22777

“…Accordingly, 3 (1.5%) patients in our entire cohort had a chromosomal anomaly, in each case an X-linked gene mutation. A CPAM patient had mosaic-type Klinefelter syndrome, an association which has only been reported twice before [17]. A CLO patient had an FLNA gene mutation, which is a known association [18].…”

Section: Discussionmentioning

confidence: 99%

Associated Anomalies in Congenital Lung Abnormalities: A 20-Year Experience

Hermelijn¹,

Zwartjes²,

Tiddens³

et al. 2020

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Introduction: A congenital lung abnormality (CLA) is often found in conjunction with other abnormalities but screening guidelines for newborns with CLA have not yet been reported. We aimed to assess the incidence of associated anomalies in CLA patients born or followed up at our centre and the need for additional screening of newborns with a CLA. Methods: From a retrospective chart review of all patients born with a CLA between January 1999 and January 2019, we identified patients diagnosed with a congenital pulmonary airway malformation, bronchopulmonary sequestration, congenital lobar overinflation, bronchogenic cyst, or lung agenesis. Associated anomalies were noted and categorized according to the affected organ system. Results: Twenty-eight (14%) of 196 CLA patients had a major associated anomaly. This was most frequent in conjunction with a lung agenesis (100%) or bronchogenic cyst (29%). Congenital heart defects (32%) and gastrointestinal defects (18%) were the most frequently associated anomalies. Examination of newborns with a CLA should focus on the cardiovascular and gastrointestinal tract, and a chest and abdominal radiograph may be useful to assess signs of major associated anomalies, regardless of the clinical course.

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“…However, his respiratory function deteriorated even more. After evaluation by the multidisciplinary lung transplant team, double lung transplantation was performed in July 2016, thus pulmonary airway malformation associated with mosaic Klinefelter syndrome and it was diagnosed during pregnancy due to a fetal malformation [6]. Another case of Klinefelter syndrome and pulmonary involvement was reported in a young patient with bronchial asthma and frequent exacerbations whose clinical course was improved after androgen replacement therapy, suggesting that (Th2) cell-driven inflammatory disease, can occur in KS probably due to the negative impact of hypogonadism on lung function [7].…”

Section: Case Reportmentioning

confidence: 99%

Bilateral Lung Transplantation Due to Sjögren's Syndrome in a Patient with Klinefelter Syndrome

Beauperthuy¹,

Francisco²,

Esparcia³

et al. 2021

Clin Med Rev Case Rep

0

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Klinefelter syndrome is one of the most frequent congenital chromosome disorders. Autoimmune diseases are not uncommon in patients with Klinefelter syndrome and associations between them have long been described. However, there is a paucity of literature regarding the effect of hypogonadism on respiratory system in these patients. Herein, we described a 28-year-old patient who presented with a constellation of unexplained respiratory signs and symptoms, such as tachypnea, hypoxemia, crackles recurrent pulmonary infections since childhood and progressive worsening of his pulmonary function, was diagnosed with Klinefelter syndrome in adulthood. CT chest with diffuse interstitial lung involvement and multiple cystic areas. Based on the radiological findings, an underlying autoimmune process was suspected and investigations showed findings compatible with Sjögren's syndrome. Double lung transplantation was thus indicated considering the irreversible interstitial changes in both lungs. Explant biopsy showed up histological pattern suggestive of interstitial lung disease with autoimmune features. Therefore, the importance of suspecting connective tissue diseases in patients with Klinefelter syndrome, perhaps due to the double X chromosome and a low androgen-toestrogen ratio that characterizes them.

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“…However, his respiratory function deteriorated even more. After evaluation by the multidisciplinary lung transplant team, double lung transplantation was performed in July 2016, thus pulmonary airway malformation associated with mosaic Klinefelter syndrome and it was diagnosed during pregnancy due to a fetal malformation [6]. Another case of Klinefelter syndrome and pulmonary involvement was reported in a young patient with bronchial asthma and frequent exacerbations whose clinical course was improved after androgen replacement therapy, suggesting that (Th2) cell-driven inflammatory disease, can occur in KS probably due to the negative impact of hypogonadism on lung function [7].…”

Section: Case Reportmentioning

confidence: 99%

Untitled

2021

Clin Med Rev Case Rep

0

View full text Add to dashboard Cite

Klinefelter syndrome is one of the most frequent congenital chromosome disorders. Autoimmune diseases are not uncommon in patients with Klinefelter syndrome and associations between them have long been described. However, there is a paucity of literature regarding the effect of hypogonadism on respiratory system in these patients. Herein, we described a 28-year-old patient who presented with a constellation of unexplained respiratory signs and symptoms, such as tachypnea, hypoxemia, crackles recurrent pulmonary infections since childhood and progressive worsening of his pulmonary function, was diagnosed with Klinefelter syndrome in adulthood. CT chest with diffuse interstitial lung involvement and multiple cystic areas. Based on the radiological findings, an underlying autoimmune process was suspected and investigations showed findings compatible with Sjögren's syndrome. Double lung transplantation was thus indicated considering the irreversible interstitial changes in both lungs. Explant biopsy showed up histological pattern suggestive of interstitial lung disease with autoimmune features. Therefore, the importance of suspecting connective tissue diseases in patients with Klinefelter syndrome, perhaps due to the double X chromosome and a low androgen-toestrogen ratio that characterizes them.

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Congenital pulmonary airway malformation associated with mosaic Klinefelter syndrome

Cited by 5 publications

References 15 publications

Associated Anomalies in Congenital Lung Abnormalities: A 20-Year Experience

Associated Anomalies in Congenital Lung Abnormalities: A 20-Year Experience

Bilateral Lung Transplantation Due to Sjögren's Syndrome in a Patient with Klinefelter Syndrome

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