PMID- 11822575
OWN - NLM
STAT- MEDLINE
DCOM- 20020717
LR  - 20190906
IS  - 0334-018X (Print)
IS  - 0334-018X (Linking)
VI  - 15
IP  - 1
DP  - 2002 Jan
TI  - Congenital hypothyroidism with Prader-Willi syndrome.
PG  - 105-7
AB  - We report a 1 year-old female patient with severe hypotonia who has congenital 
      hypothyroidism and Prader-Willi syndrome (PWS). At birth she was found to have 
      congenital hypothyroidism caused by an ectopic sublingual thyroid gland and was 
      commenced on thyroid replacement therapy. She continued to have severe motor 
      delay and therefore further diagnostic evaluation was performed. PWS was 
      confirmed by DNA and fluorescence in situ hybridization (FISH) analysis. This 
      report emphasizes the need to further investigate patients who are found to have 
      congenital hypothyroidism and do not improve adequately on treatment.
FAU - Sher, Carron
AU  - Sher C
AD  - Genetic Institute, Assaf-Harofeh Medical Center Zrifin, Israel. 
      carrons@asaf.health.gov.il
FAU - Bistritzer, Tzvi
AU  - Bistritzer T
FAU - Reisler, Gad
AU  - Reisler G
FAU - Reish, Orit
AU  - Reish O
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Germany
TA  - J Pediatr Endocrinol Metab
JT  - Journal of pediatric endocrinology & metabolism : JPEM
JID - 9508900
RN  - 0 (Thyroid Hormones)
SB  - IM
MH  - *Congenital Hypothyroidism
MH  - Female
MH  - Hormone Replacement Therapy
MH  - Humans
MH  - Hypothyroidism/*complications
MH  - Infant
MH  - Intellectual Disability/complications
MH  - Prader-Willi Syndrome/*complications/drug therapy
MH  - Thyroid Function Tests
MH  - Thyroid Hormones/therapeutic use
EDAT- 2002/02/02 10:00
MHDA- 2002/07/18 10:01
CRDT- 2002/02/02 10:00
PHST- 2002/02/02 10:00 [pubmed]
PHST- 2002/07/18 10:01 [medline]
PHST- 2002/02/02 10:00 [entrez]
AID - 10.1515/jpem.2002.15.1.105 [doi]
PST - ppublish
SO  - J Pediatr Endocrinol Metab. 2002 Jan;15(1):105-7. doi: 
      10.1515/jpem.2002.15.1.105.