PMID- 8835601
OWN - NLM
STAT- MEDLINE
DCOM- 19970204
LR  - 20190516
IS  - 0918-2918 (Print)
IS  - 0918-2918 (Linking)
VI  - 35
IP  - 6
DP  - 1996 Jun
TI  - Williams syndrome associated with chronic renal failure and various 
      endocrinological abnormalities.
PG  - 482-8
AB  - 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.
FAU - Ichinose, M
AU  - Ichinose M
AD  - Second Department of Internal Medicine, Jikei University School of Medicine, 
      Tokyo.
FAU - Tojo, K
AU  - Tojo K
FAU - Nakamura, K
AU  - Nakamura K
FAU - Matsuda, H
AU  - Matsuda H
FAU - Tokudome, G
AU  - Tokudome G
FAU - Ohta, M
AU  - Ohta M
FAU - Sakai, S
AU  - Sakai S
FAU - Sakai, O
AU  - Sakai O
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Japan
TA  - Intern Med
JT  - Internal medicine (Tokyo, Japan)
JID - 9204241
RN  - 0 (Hormones)
RN  - 0 (Insulin)
RN  - 0 (Pituitary Hormones, Anterior)
RN  - 9007-58-3 (Elastin)
SB  - IM
MH  - Adult
MH  - Chromosomes, Human, Pair 7/*genetics
MH  - Elastin/genetics
MH  - Hormones/blood
MH  - Humans
MH  - Hypogonadism/*etiology
MH  - Hypothalamo-Hypophyseal System/physiopathology
MH  - In Situ Hybridization, Fluorescence
MH  - Insulin
MH  - Kidney Failure, Chronic/*etiology
MH  - Male
MH  - Pituitary Hormones, Anterior/metabolism
MH  - Pituitary-Adrenal System/physiopathology
MH  - Renal Dialysis
MH  - Testis/pathology
MH  - Uremia/complications/pathology
MH  - Williams Syndrome/*complications/genetics/physiopathology
EDAT- 1996/06/01 00:00
MHDA- 1996/06/01 00:01
CRDT- 1996/06/01 00:00
PHST- 1996/06/01 00:00 [pubmed]
PHST- 1996/06/01 00:01 [medline]
PHST- 1996/06/01 00:00 [entrez]
AID - 10.2169/internalmedicine.35.482 [doi]
PST - ppublish
SO  - Intern Med. 1996 Jun;35(6):482-8. doi: 10.2169/internalmedicine.35.482.