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Endocrinol Metab : Endocrinology and Metabolism


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Hong Seok Choi  (Choi HS) 2 Articles
Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism
Jihong Bae, Hong Seok Choi, So Young Park, Do-Eun Lee, Sihoon Lee
Endocrinol Metab. 2018;33(2):252-259.   Published online June 21, 2018
  • 4,515 View
  • 65 Download
  • 10 Web of Science
  • 9 Crossref
AbstractAbstract PDFPubReader   ePub   

Autosomal-dominant brachydactyly type E is a congenital abnormality characterized by small hands and feet, which is a consequence of shortened metacarpals and metatarsals. We recently encountered a young gentleman exhibiting shortening of 4th and 5th fingers and toes. Initially, we suspected him having pseudopseudohypoparathyroidism (PPHP) because of normal biochemical parameters, including electrolyte, Ca, P, and parathyroid hormone (PTH) levels; however, his mother and maternal grandmother had the same conditions in their hands and feet. Furthermore, his mother showed normal biochemical parameters. To the best of our knowledge, PPHP is inherited via a mutated paternal allele, owing to the paternal imprinting of GNAS (guanine nucleotide binding protein, alpha stimulating) in the renal proximal tubule. Therefore, we decided to further analyze the genetic background in this family.


Whole exome sequencing was performed using genomic DNA from the affected mother, son, and the unaffected father as a negative control.


We selected the intersection between 45,490 variants from the mother and 45,646 variants from the son and excluded 27,512 overlapping variants identified from the father. By excluding homogenous and compound heterozygous variants and removing all previously reported variants, 147 variants were identified to be shared by the mother and son. Variants that had least proximities among species were excluded and finally 23 variants remained.


Among them, we identified a defect in parathyroid hormone like hormone (PTHLH), encoding the PTH-related protein, to be disease-causative. Herein, we report a family affected with brachydactyly type E2 caused by a novel PTHLH mutation, which was confused with PPHP with unclassical genetic penetrance.


Citations to this article as recorded by  
  • A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature
    Jian Sun, Nian Yang, Zhengquan Xu, Hongbo Cheng, Xiangxin Zhang
    Molecular Genetics & Genomic Medicine.2024;[Epub]     CrossRef
  • A novel mutation in PTHLH in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay
    Mirjam E.A. Scheffer-Rath, Hermine E. Veenstra-Knol, Annemieke M. Boot
    Bone Reports.2023; 19: 101699.     CrossRef
  • Bioactive phytoconstituents as potent inhibitors of casein kinase-2: dual implications in cancer and COVID-19 therapeutics
    Farah Anjum, Md Nayab Sulaimani, Alaa Shafie, Taj Mohammad, Ghulam Md. Ashraf, Anwar L. Bilgrami, Fahad A. Alhumaydhi, Suliman A. Alsagaby, Dharmendra Kumar Yadav, Md. Imtaiyaz Hassan
    RSC Advances.2022; 12(13): 7872.     CrossRef
  • Characterization and expression profiling of G protein-coupled receptors (GPCRs) in Spodoptera litura (Lepidoptera: Noctuidae)
    Yanxiao Li, Han Gao, Hui Zhang, Runnan Yu, Fan Feng, Jing Tang, Bin Li
    Comparative Biochemistry and Physiology Part D: Genomics and Proteomics.2022; 44: 101018.     CrossRef
  • Genes with specificity for expression in the round cell layer of the growth plate are enriched in genomewide association study (GWAS) of human height
    Nora E. Renthal, Priyanka Nakka, John M. Baronas, Henry M. Kronenberg, Joel N. Hirschhorn
    Journal of Bone and Mineral Research.2020; 36(12): 2300.     CrossRef
  • Search for Novel Mutational Targets in Human Endocrine Diseases
    So Young Park, Myeong Han Seo, Sihoon Lee
    Endocrinology and Metabolism.2019; 34(1): 23.     CrossRef
  • A Heterozygous Splice-Site Mutation in PTHLH Causes Autosomal Dominant Shortening of Metacarpals and Metatarsals
    Monica Reyes, Bert Bravenboer, Harald Jüppner
    Journal of Bone and Mineral Research.2019; 34(3): 482.     CrossRef
  • A 3.06-Mb interstitial deletion on 12p11.22-12.1 caused brachydactyly type E combined with pectus carinatum
    Jia Huang, Hong-Yan Liu, Rong-Rong Wang, Hai Xiao, Dong Wu, Tao Li, Ying-Hai Jiang, Xue Zhang
    Chinese Medical Journal.2019; 132(14): 1681.     CrossRef
  • Parathyroid Hormone-Related Protein in the Hand or Out of Hand?
    Sang Wan Kim
    Endocrinology and Metabolism.2018; 33(2): 202.     CrossRef
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Medullary Thyroid Carcinoma with Ectopic Adrenocorticotropic Hormone Syndrome
Hong Seok Choi, Min Joo Kim, Chae Ho Moon, Jong Ho Yoon, Ha Ra Ku, Geon Wook Kang, Im Il Na, Seung-Sook Lee, Byung-Chul Lee, Young Joo Park, Hong Il Kim, Yun Hyi Ku
Endocrinol Metab. 2014;29(1):96-100.   Published online March 14, 2014
  • 3,762 View
  • 40 Download
  • 4 Web of Science
  • 4 Crossref
AbstractAbstract PDFPubReader   

Ectopic adrenocorticotropic hormone (ACTH) syndrome is caused most frequently by a bronchial carcinoid tumor or by small cell lung cancer. Medullary thyroid carcinoma (MTC) is a rare etiology of ectopic ACTH syndrome. We describe a case of Cushing syndrome due to ectopic ACTH production from MTC in a 48-year-old male. He was diagnosed with MTC 14 years ago and underwent total thyroidectomy, cervical lymph node dissection and a series of metastasectomies. MTC was confirmed by the pathological examination of the thyroid and metastatic mediastinal lymph node tissues. Two years after his last surgery, he developed Cushingoid features, such as moon face and central obesity, accompanied by uncontrolled hypertension and new-onset diabetes. The laboratory results were compatible with ectopic ACTH syndrome. A bilateral adrenalectomy improved the clinical and laboratory findings that were associated with Cushing syndrome. This is the first confirmed case of ectopic ACTH syndrome caused by MTC in Korea.


Citations to this article as recorded by  
  • Medullary Thyroid Cancer with Ectopic Cushing's Syndrome: A Case Report and Systematic Review of Detailed Cases from the Literature
    Andrea Corsello, Vittoria Ramunno, Pietro Locantore, Giovanni Pacini, Esther Diana Rossi, Francesco Torino, Alfredo Pontecorvi, Carmela De Crea, Rosa Maria Paragliola, Marco Raffaelli, Salvatore Maria Corsello
    Thyroid.2022; 32(11): 1281.     CrossRef
  • Mucosal Neuroma Cues for Endocrine Emergency Treatment
    Gyu Gang Choi, Hwan Jin Lee, Hyo Jin Han, Young Beom Jeong, Heung Bum Lee, Ji Hyun Park
    Endocrinology and Metabolism.2021; 36(6): 1312.     CrossRef
  • Articles in 'Endocrinology and Metabolism' in 2014
    Won-Young Lee
    Endocrinology and Metabolism.2015; 30(1): 47.     CrossRef
  • Rapid response of hypercortisolism to vandetanib treatment in a patient with advanced medullary thyroid cancer and ectopic Cushing syndrome
    Fabián Pitoia, Fernanda Bueno, Angélica Schmidt, Sabrina Lucas, Graciela Cross
    Archives of Endocrinology and Metabolism.2015; 59(4): 343.     CrossRef
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