Xanthomatous hypophysitis causing hypogonadotropic hypogonadism resulting in delayed presentation of slipped capital femoral epiphysis

Singh, Kirit; Kanodia, Avinash Kumar; Ross, Peter; Torgersen, Antonia; Maclean, J. G. B.; Leese, Graham; Hossain-Ibrahim, Kismet

doi:10.1080/02688697.2018.1525482

Cited by 7 publications

(8 citation statements)

References 22 publications

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“…Twenty-seven articles were identified between the years 1953 and 2018 describing 32 cases of delayed-onset SCFE. 2,4567891011121314151617181920212223242526272829 Including the case presented in this article, 31 of the 33 cases (93.9%) of delayed-onset SCFE were associated with an endocrine disorder or pituitary tumor. See Table 1 for the endocrine disorders and pituitary tumors associated with delayed-onset SCFE identified in the literature review.…”

Section: Resultsmentioning

confidence: 89%

Slipped Capital Femoral Epiphysis in an Adult Patient With Kabuki Syndrome

2019

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Introduction:Slipped capital femoral epiphysis (SCFE) is a condition which predominantly occurs in adolescents. SCFE is extremely rare in adults, and nearly all previous reported cases have been associated with an endocrine disorder.Methods:We present a case of a 19-year-old man with Kabuki syndrome who was diagnosed with an unstable SCFE requiring surgical fixation. A literature search on PubMed and Google Scholar was done looking for all published cases of delayed-onset SCFE. All previous reported cases were reviewed to determine the likely cause of the SCFE.Results:No previous cases of SCFE were described in patients with Kabuki syndrome. Literature review revealed 27 articles describing 32 cases of delayed-onset SCFE. Thirty-one of these cases were associated with endocrine disorders or pituitary tumors. Endocrine disorders associated with delayed-onset SCFE included hypothyroidism, hypogonadism, and panhypopituitarism. Pituitary adenomas and craniopharyngiomas were also associated with delayed-onset SCFE.Discussion:This is the first reported case of SCFE in a patient with Kabuki syndrome. Kabuki syndrome is a genetic disorder known to cause delayed growth, resulting in delayed physeal closure, placing the patients at risk of SCFE even into adulthood. The literature search revealed that nearly all previously described delayed-onset SCFE cases were associated with endocrine disorders or pituitary tumors. We recommend that all patients diagnosed with delayed-onset SCFE be evaluated for endocrine disorders, pituitary tumors, and/or genetic disorders which can cause delayed skeletal maturation as these disorders can range from severe endocrine disorders to intracranial tumors.

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Section: Resultsmentioning

confidence: 89%

Slipped Capital Femoral Epiphysis in an Adult Patient With Kabuki Syndrome

2019

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“…There were 36 cases of XHP, including 35 in previous literature (3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22) and one in our center (summarized in Table 2). The mean age at diagnosis was 39.1 years (range 12-72), and 27 (75.0%) patients were female.…”

Section: Literature Reviewmentioning

confidence: 94%

Xanthomatous Hypophysitis: A Case Report and Comprehensive Literature Review

Zhu

Wang

et al. 2021

Front. Endocrinol.

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PurposeXanthomatous hypophysitis (XHP) is an extremely rare form of primary hypophysitis for which there is a lack of clinical experience. A comprehensive understanding of its clinical characteristics, diagnosis and treatment is needed.MethodsHere, we report a case study and conduct a systematic review of XHP. Thirty-six cases were included, and their clinical manifestations, endocrine assessment, imaging features, treatment and follow-up data were collected and analyzed.ResultsThe mean age at diagnosis was 39.1 years, and females were predominant (75.0%). The most common symptom was headache (68.6%), and 66.7% of female patients presented menstrual disorders. The most common pituitary dysfunction was growth hormone (GH) deficiency. More than half of patients exhibited central diabetes insipidus (CDI). The majority of patients had an imaging presentation of a cystic lesion with peripheral enhancement. Pituitary stalk thickening was observed in half of the patients. Total lesion resection was achieved in 57.1% of cases. The recurrence rate after partial resection and biopsy was significantly higher than that after total lesion resection (57.1% vs. 0.0%, P = 0.0147). The most common pituitary hormone abnormalities to resolve after surgery were hyperprolactinemia (100.0%) and GH deficiency (91.7%). The typical pathological feature was inflammatory infiltration of foamy histiocytes, which showed positivity for CD68.ConclusionDiagnosis of XHP is difficult when relying on clinical symptoms and imaging features. Therefore, surgical histopathology is necessary. Based on the available evidence, total lesion resection is recommended for treatment. However, the long-term prognosis for this rare disease remains unclear.

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“…The pathogenesis of XH remains unclear owing to the extremely small case numbers, and although it was first thought to be due to an infectious agent, more recent work suggest that XH may be a reactive hypophysitis occurring secondarily to a ruptured Rathke’s cleft cyst [6, 12, 41]. The histological findings of a metaplastic epithelium support this hypothesis.…”

Section: Resultsmentioning

confidence: 99%

“…Moreover, surgery provides a histological diagnosis to guide future management [83]. The rate of recurrence/relapse of PH after surgery is 11–25% [3, 41, 51, 52]. Only a few cases of LH have been treated with stereotactic radiotherapy, leading to resolution of symptoms after 2 weeks to 6 months [39, 66].…”

Section: Resultsmentioning

confidence: 99%

Hypophysitis (Including IgG4 and Immunotherapy)

et al. 2020

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Hypophysitis is characterized by inflammation of the pituitary gland that can be primary (PH) or secondary (SH) to other diseases or following drug administration. It may also be classified according to anatomical and histopathological criteria, leading to variable degrees of hypopituitarism and/or compressive symptoms to nearby structures. There has recently been an increase in the number of hypophysitis cases, raising the interest on the spectrum of its pathogenesis, clinical, biochemical/endocrinological, and imaging features. However, the use of conventional biomarkers, including currently utilized pituitary autoantibodies, has relatively limited diagnostic accuracy. Lymphocytic hypophysitis (LH) is the commonest cause of PH, whereas IgG4-related hypophysitis is increasingly being recognized. Histiocytosis and granulomatous diseases are the most frequent causes of SH, although infections and lymphoma have also been reported. The increasing use of immune checkpoint inhibitors in oncology is associated with a high incidence of hypophysitis, providing further understanding of its pathogenesis. Hy-pophysitis can occur silently and be easily missed, potentially leading to substantial morbidity or mortality due to adrenal insufficiency, requiring a high index of clinical suspicion and timely initiation of appropriate treatment. In most cases of LH or drug-induced hypophysitis, active surveillance along with replacement of established hormonal deficiencies is needed. In the presence of compressive and/or evolving symptoms, treatment with glucocorticoids either alone or in combination with other immunosuppressive agents can be used. Surgical decompression is reserved for nonresponsive cases with threatened vital structures. Timely diagnosis and intervention are important to minimize disease-related morbidity and mortality. We aimed to review current concepts and recent developments in the pathogenesis, diagnosis, and management of hypophysitis.

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Xanthomatous hypophysitis causing hypogonadotropic hypogonadism resulting in delayed presentation of slipped capital femoral epiphysis

Cited by 7 publications

References 22 publications

Slipped Capital Femoral Epiphysis in an Adult Patient With Kabuki Syndrome

Slipped Capital Femoral Epiphysis in an Adult Patient With Kabuki Syndrome

Xanthomatous Hypophysitis: A Case Report and Comprehensive Literature Review

Hypophysitis (Including IgG4 and Immunotherapy)

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