Turner syndrome and postpubertal Empty sella syndrome: a case report and literature review
IntroductionTurner syndrome is a common sex chromosome disorder characterized by short stature, gonadal dysgenesis, and hypergonadotropic hypogonadism. Empty Sella Syndrome is defined radiologically as the presence of cerebrospinal fluid filling the sella turcica and is associated with hypopituitari...
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Frontiers Media S.A.
2025-06-01
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| Series: | Frontiers in Endocrinology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fendo.2025.1552724/full |
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| author | Fanyu Lin Fanyu Lin Jing Zeng Jing Zeng |
| author_facet | Fanyu Lin Fanyu Lin Jing Zeng Jing Zeng |
| author_sort | Fanyu Lin |
| collection | DOAJ |
| description | IntroductionTurner syndrome is a common sex chromosome disorder characterized by short stature, gonadal dysgenesis, and hypergonadotropic hypogonadism. Empty Sella Syndrome is defined radiologically as the presence of cerebrospinal fluid filling the sella turcica and is associated with hypopituitarism. The association between TS and ESS is rare.MethodsWe present a case of Turner syndrome associated with Empty Sella Syndrome, characterized by complete development of secondary sexual characteristics but irregular menstruation. Magnetic resonance imaging of the pituitary gland revealed partial empty sella with evidence of pituitary compression. Laboratory investigations indicated hypogonadotropic hypogonadism, central hypothyroidism, and an insulin-induced hypoglycemia test suggested insufficient compensatory growth hormone secretion, while cortisol compensation was normal. To ascertain the correlation between Turner syndrome and Empty Sella Syndrome, we reviewed the literature and tried to explore the potential pathophysiological mechanisms underlying their co-occurrence, thereby providing evidence and reference value for clinical diagnosis.DiscussionThe etiology of post-pubertal pituitary dysfunction in patients with Turner syndrome remains obscure. Both primary and secondary Empty Sella Syndromes may be potential underlying causes, and some familial histories suggest the presence of an as-yet-undefined genetic-related patho-physiological mechanism that warrants further investigation. |
| format | Article |
| id | doaj-art-1016427fdcec476d80e97a236c8a4e06 |
| institution | DOAJ |
| issn | 1664-2392 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Endocrinology |
| spelling | doaj-art-1016427fdcec476d80e97a236c8a4e062025-08-20T03:07:17ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922025-06-011610.3389/fendo.2025.15527241552724Turner syndrome and postpubertal Empty sella syndrome: a case report and literature reviewFanyu Lin0Fanyu Lin1Jing Zeng2Jing Zeng3Department of General Internal Medicine, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, ChinaDepartment of General Internal Medicine, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, Sichuan, ChinaIntroductionTurner syndrome is a common sex chromosome disorder characterized by short stature, gonadal dysgenesis, and hypergonadotropic hypogonadism. Empty Sella Syndrome is defined radiologically as the presence of cerebrospinal fluid filling the sella turcica and is associated with hypopituitarism. The association between TS and ESS is rare.MethodsWe present a case of Turner syndrome associated with Empty Sella Syndrome, characterized by complete development of secondary sexual characteristics but irregular menstruation. Magnetic resonance imaging of the pituitary gland revealed partial empty sella with evidence of pituitary compression. Laboratory investigations indicated hypogonadotropic hypogonadism, central hypothyroidism, and an insulin-induced hypoglycemia test suggested insufficient compensatory growth hormone secretion, while cortisol compensation was normal. To ascertain the correlation between Turner syndrome and Empty Sella Syndrome, we reviewed the literature and tried to explore the potential pathophysiological mechanisms underlying their co-occurrence, thereby providing evidence and reference value for clinical diagnosis.DiscussionThe etiology of post-pubertal pituitary dysfunction in patients with Turner syndrome remains obscure. Both primary and secondary Empty Sella Syndromes may be potential underlying causes, and some familial histories suggest the presence of an as-yet-undefined genetic-related patho-physiological mechanism that warrants further investigation.https://www.frontiersin.org/articles/10.3389/fendo.2025.1552724/fullTurner syndromeEmpty sella syndromemultiple hypopituitarismcentral hypothyroidismhypogonadotropic hypogonadism |
| spellingShingle | Fanyu Lin Fanyu Lin Jing Zeng Jing Zeng Turner syndrome and postpubertal Empty sella syndrome: a case report and literature review Frontiers in Endocrinology Turner syndrome Empty sella syndrome multiple hypopituitarism central hypothyroidism hypogonadotropic hypogonadism |
| title | Turner syndrome and postpubertal Empty sella syndrome: a case report and literature review |
| title_full | Turner syndrome and postpubertal Empty sella syndrome: a case report and literature review |
| title_fullStr | Turner syndrome and postpubertal Empty sella syndrome: a case report and literature review |
| title_full_unstemmed | Turner syndrome and postpubertal Empty sella syndrome: a case report and literature review |
| title_short | Turner syndrome and postpubertal Empty sella syndrome: a case report and literature review |
| title_sort | turner syndrome and postpubertal empty sella syndrome a case report and literature review |
| topic | Turner syndrome Empty sella syndrome multiple hypopituitarism central hypothyroidism hypogonadotropic hypogonadism |
| url | https://www.frontiersin.org/articles/10.3389/fendo.2025.1552724/full |
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