A patient with ossification of the yellow ligament and ventriculomegaly with 22q11.2 deletion syndrome undiagnosed until adulthood

Ichinose, Yuichi; Kurita, Takafumi; Satake, Akane; Natori, Takahiro; Shindo, Kazumasa; Takiyama, Yoshihisa

doi:10.1016/j.heliyon.2020.e05600

Cited by 3 publications

(1 citation statement)

References 4 publications

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“…Several disorders were reported to be associated with spinal ligament ossification, such as diabetes mellitus ( Bakhsh et al, 2019 ; Kobashi et al, 2004 ), obesity ( Kobashi et al, 2004 ), hypoparathyroidism ( Ichinose et al, 2020 ; Sohail et al, 2018 ), hereditary fibroblast growth factor (FGF) 23-related hypophosphatemic rickets/osteomalacia ( Karaplis et al, 2012 ; Kato et al, 2022 ; Kato et al, 2021 ) (previously known as vitamin D-resistant rickets ( Lee et al, 2012 )), and myotonic dystrophy ( Ishizawa et al, 2014 ; Kinoshita et al, 1997 ). Regarding multifactorial inheritance, in 2014, a genome-wide association study (GWAS) revealed several susceptibility genes for OPLL ( Nakajima et al, 2014 ).…”

Section: Introductionmentioning

confidence: 99%

Incidence of ossification of the spinal ligaments in acromegaly patients

Hoshino

Hidaka²,

Katô³

et al. 2022

Bone Reports

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Section: Introductionmentioning

confidence: 99%

Incidence of ossification of the spinal ligaments in acromegaly patients

Hoshino

Hidaka²,

Katô³

et al. 2022

Bone Reports

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Hypoparathyroidism and late-onset hypogonadism in an adult male with familial 22q11.2 deletion syndrome: a case report with 3-year follow-up and review of the literature

Chen

Yang

et al. 2022

BMC Endocr Disord

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Background 22q11.2 deletion syndrome (DiGeorge syndrome) is associated with multiple organ dysfunctions such as cardiac defects, immunodeficiency, and hypoplasia of parathyroid glands. Moreover, the phenotype of 22q11.2 DS has clinical variability and heterogeneity. Case presentation In this report, we present the case of a 35-year-old patient with a past medical history that included recurrent infections, mild learning difficulties in childhood, pediatric obesity, and cataract. He was admitted to the endocrinology department for the management of hypogonadism and hypocalcemia. During the 3-year follow-up, the patient gradually developed primary hypoparathyroidism, hypogonadism, chronic renal failure, and heart failure, and his medical condition deteriorated. Meanwhile, in order to improve clinicians’ awareness of the endocrine manifestations of adult 22q11.2 DS and reduce missed diagnoses, we reviewed 28 case reports of adult 22q11.2 DS to analyze the clinical characteristics. Discussion Here, we report the case of a young man diagnosed with 22q11.2 DS presented a rare combination of multiple endocrine disorders. This is the first time that a patient with 22q11.2DS had late-onset hypogonadism caused by primary testicular failure combined with decreased pituitary gonadotropin reserve in a patient with 22q11.2DS.

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