Williams Syndrome Associated with Chronic Renal Failure and Various Endocrinological Abnormalities

Mayuri ICHINOSE; Katsuyoshi TOJO; Koji NAKAMURA; Hiroyuki MATSUDA; Goro TOKUDOME; Makoto OHTA; Soichi SAKAI; Osamu SAKAI

doi:10.2169/internalmedicine.35.482

Mayuri ICHINOSE, Katsuyoshi TOJO, Koji NAKAMURA, Hiroyuki MATSUDA, Goro TOKUDOME, Makoto OHTA, Soichi SAKAI, Osamu SAKAI

Author information

Mayuri ICHINOSE
The Second Department of Internal Medicine, the Jikei University School of Medicine
Katsuyoshi TOJO
The Second Department of Internal Medicine, the Jikei University School of Medicine
Koji NAKAMURA
The Second Department of Internal Medicine, the Jikei University School of Medicine
Hiroyuki MATSUDA
The Second Department of Internal Medicine, the Jikei University School of Medicine
Goro TOKUDOME
The Second Department of Internal Medicine, the Jikei University School of Medicine
Makoto OHTA
The Second Department of Internal Medicine, the Jikei University School of Medicine
Soichi SAKAI
The Second Department of Internal Medicine, the Jikei University School of Medicine
Osamu SAKAI
The Second Department of Internal Medicine, the Jikei University School of Medicine

Keywords: autosomal dominant disorders, elastin gene, supravalvular aortic stenosis (SVAS), short stature, hemodialysis

JOURNAL FREE ACCESS

1996 Volume 35 Issue 6 Pages 482-488

DOI https://doi.org/10.2169/internalmedicine.35.482

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Abstract

A 31-year-old man who had been under regular hemodialysis for 6 months was diagnosed as Williams syndrome (WS) by fluorescence in situ hybridization (FISH) chromosomal analysis. The association of WS and chronic renal failure (CRF) is only rarely encountered. Endocrinological examinations revealed hypergonadotropic hypogonadism. Prolonged and exaggerated responses of adrenocorticotropin (ACTH) to insulin-induced hypoglycemia and corticotropin releasing hormone (CRH) were also noted. While most of the endocrinological abnormalities observed in this patient could be attributed to altered endocrine circumstances in CRF, some findings stand in contrast. Furthermore, the testicular biopsy specimen showed severe hypospermatogenesis. Endocrine disorders observed in this patient may be at least in part, responsible for various clinical features underlying WS.
(Internal Medicine 35: 482-488, 1996)

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