Empty Sella Syndrome Associated with Growth Hormone Deficiency: the First Case Report of Weiss-Kruszka Syndrome

Jisun Park; Dong Jun Ha; Go Hun SeoSeri MaengSung Mo KangSujin KimJi Eun Lee

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Empty Sella Syndrome Associated with Growth Hormone Deficiency: the First Case Report of Weiss-Kruszka Syndrome

机译：Empty Sella Syndrome Associated with Growth Hormone Deficiency: the First Case Report of Weiss-Kruszka Syndrome

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Weiss-Kruszka syndrome (WSKA), caused by heterozygous loss-of-function variants in ZNF462 gene, is a recently described and extremely rare genetic disorder. The main phenotypes include characteristic craniofacial features, ptosis, dysgenesis of the corpus callosum, and neurodevelopmental impairment. We report the first Korean boy with molecularly confirmed WSKA presenting with an atypical manifestation. A 16-year-old boy with a history of bilateral ptosis surgery presented with short stature (-3.49 standard deviation score) and delayed puberty. The patient showed characteristic craniofacial features including an inverted triangular-shaped head, exaggerated Cupid's bow, arched eyebrows, down-slanting palpebral fissures, and poorly expressive face. He had a mild degree of intellectual disability and mild hypotonia. Endocrine studies in the patient demonstrated complete growth hormone deficiency (GHD) associated with empty sella syndrome (ESS), based on a magnetic resonance imaging study for the brain that showed a flattened pituitary gland and cerebrospinal fluid space herniated into the sella turcica. To identify the genetic cause, we performed whole exome sequencing (WES). Through WES, a novel de novo heterozygous nonsense variant, c.4185del; p.(Met1396Ter) in ZNF462 was identified. This is the first case of WSKA accompanied by primary ESS associated with GHD. More clinical and functional studies are needed to elucidate this association.© 2021 The Korean Academy of Medical Sciences.

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《Journal of Korean medical science.》 |2021年第18期|1-8|共8页
作者
Jisun Park; Dong Jun Ha; Go Hun SeoSeri MaengSung Mo KangSujin KimJi Eun Lee;
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作者单位

Department of Pediatrics, Inha University Hospital, Inha University College of Medicine;

Northwest Gyeonggi Regional Center for Rare Disease, Inha University Hospital;

Billion IncDepartment of Psychiatry, Inha University Hospital, Inha University College of MedicineDepartment of Ophthalmology, Inha University Hospital, Inha University College of Medicine;

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正文语种英语
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Empty Sella; Growth Hormone Deficiency; Weiss-Kruszka Syndrome; ZNF462;

Empty Sella Syndrome Associated with Growth Hormone Deficiency: the First Case Report of Weiss-Kruszka Syndrome

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