Endocrinology and Metabolism

So Yeon An (An SY)

2 Articles

A Case of CATCH22 Syndrome with Normal Parathyroid Function.: Min Jeong Lee, So Yeon An, Chang Bum Bae, Young Bae Sohn, Yoon Sok Chung; Endocrinol Metab. 2012;27(2):151-154. Published online June 20, 2012; DOI: https://doi.org/10.3803/EnM.2012.27.2.151

1,749 View
19 Download
1 Crossref

CATCH 22 is a medical acronym for cardiac defects, abnormal faces, thymic hypoplasia, cleft palate, and hypocalcemia, and a variable deletion on chromosome 22. It includes DiGeorge syndrome, conotruncal anomaly face syndrome, and velo-cardio-facial syndrome. It has a prevalence estimated at 1:3,000-1:6,000. Most deletions occur at de novo, but autosomal dominant inheritance is observed in 6-10% of cases. Hormonal disorders are common in patients with CATCH22 syndrome. While hypoparathyroidism was the predominant endocrine disturbance that has been documented in the DiGeorge syndrome, other hormonal defects, such as growth hormone deficiency, hypothyroidism, and hyperthyroidism have been occurred in patients with CATCH22 syndrome. The spectrum of parathyroid gland dysfunction in this syndrome ranges from severe neonatal hypocalcemia to normal parathyroid function. Most patients are usually diagnosed in young age, but a few patients with mild abnormality are presented later in life. We report a case of CATCH22 syndrome with normal parathyroid hormone and calcium level in an adult. The diagnosis of CATCH22 syndrome was confirmed by fluorescence in situ hybridization analysis.

Citations

Citations to this article as recorded by

A Case of CATCH22 Syndrome Diagnosed in Postmenopausal Woman
Seung Kyung Lee, Min Jeong Lee, Hyo Jin Lee, Bu Kyung Kim, Young Bae Sohn, Yoon-Sok Chung
Journal of Bone Metabolism.2013; 20(1): 57. CrossRef

A Case Report of Hajdu-Cheney Syndrome.: Eun Jin Han, Jun Il Mun, So Yeon An, Yun Jung Jung, Ok Hwa Kim, Yoon Sok Chung; Endocrinol Metab. 2010;25(2):152-156. Published online June 1, 2010; DOI: https://doi.org/10.3803/EnM.2010.25.2.152

1,993 View
21 Download
4 Crossref

Abstract PDF

Hajdu-Cheney syndrome (HCS) is a rare skeletal dysplasia that is characterized by acroosteolysis of the distal phalanges, distinctive craniofacial and skull changes, dental abnormalities and generalized osteoporosis. The clinical and radiologic characteristics are variable and these characteristics progress with age. This syndrome shows autosomal dominant inheritance with sporadic cases. The genetic defects or molecular pathogenesis of HCS are still unknown. We experienced a case of Hajdu-Cheney syndrome in a 20-year-old man who had generalized osteoporosis with multiple non-traumatic spine compression fractures. He had acroosteolysis of the hands and feet, wormian bones in the skull, facial dysmorphism (mid-facial flattening, micrognathia and bushy eyebrows), a high arched palate, malocclusion and short dental alveolar processes. HCS was diagnosed based on the clinical and radiologic evidence. For the differential diagnosis, we excluded the other possible causes of the acroosteolysis and wormian bones, including hyperparathyroidism, osteogenesis imperfecta, hypophosphatemia and mandibuloacral dysplasia. The specific treatment of HCS is unknown, but case reports with bisphosphonate treatment have been reported.

Citations

Citations to this article as recorded by

Band acro-osteolysis in a Black woman: a case report and review of the literature
Jin-Myoung Dan, Cheungsoo Ha, Ho-Jae Lee
Archives of Hand and Microsurgery.2022; 27(1): 62. CrossRef
Clinical consequences in truncating mutations in exon 34 of NOTCH2: Report of six patients with Hajdu–Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome
Yoko Narumi, Byung‐Joo Min, Kenji Shimizu, Itsuro Kazukawa, Kiyoko Sameshima, Koichi Nakamura, Tomoki Kosho, Yumie Rhee, Yoon‐Sok Chung, Ok‐Hwa Kim, Yoshimitsu Fukushima, Woong‐Yang Park, Gen Nishimura
American Journal of Medical Genetics Part A.2013; 161(3): 518. CrossRef
An Unusual Presentation of Diabetic Ketoacidosis in Familial Hajdu-Cheney Syndrome: A Case Report
Gil-Ho Lee, So-Yeon An, Young Bae Sohn, Seon-Yong Jeong, Yoon-Sok Chung
Journal of Korean Medical Science.2013; 28(11): 1682. CrossRef
Effect of Zoledronic Acid on Acro-Osteolysis and Osteoporosis in a Patient with Hajdu-Cheney Syndrome
Sena Hwang, Dong Yoeb Shin, Seong Hwan Moon, Eun Jig Lee, Sung-Kil Lim, Ok Hwa Kim, Yumie Rhee
Yonsei Medical Journal.2011; 52(3): 543. CrossRef

Author index