Document Detail

Pseudohypoparathyroidism type 1A and morbid obesity in infancy.
MedLine Citation:
PMID:  19364695     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: To describe an infant with early excessive weight gain as the principle manifestation of pseudohypoparathyroidism (PHP) type 1a and Albright hereditary osteodystrophy (AHO). METHODS: We describe the clinical and laboratory findings in an infant with early excessive weight gain without evidence of hyperphagia and review relevant literature. RESULTS: The proband's birth weight was 4047 g (1.4 SD). She was breastfed from birth. Excessive weight gain was noted by 1 month of age. At 3 months of age, hard subcutaneous nodules were observed, and histologic analysis of a biopsied lesion suggested a possible diagnosis of ossified pilomatricoma. At 6 months of age, she was documented to have mild hypothyroidism. Abnormal weight gain continued despite a caloric intake of about 65 kcal/kg per day. At 11 months of age, 2 new subcutaneous hard nodules were identified, which in the context of excessive weight gain and evolving mild primary hypothyroidism, suggested a unifying diagnosis of PHP type 1a and AHO. GNAS sequence analysis was performed, which revealed a 4-base deletion (Nt565delGACT) in exon 8. CONCLUSIONS: As more monogenic causes of severe early obesity are described, it is important to consider PHP type 1a in the differential diagnosis. Lack of short stature, skeletal abnormalities, or absence of PTH resistance should not exclude this diagnosis in a young child.
Bassem H Dekelbab; David J Aughton; Michael A Levine
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists     Volume:  15     ISSN:  1934-2403     ISO Abbreviation:  Endocr Pract     Publication Date:  2009 Apr 
Date Detail:
Created Date:  2009-04-14     Completed Date:  2009-07-27     Revised Date:  2010-03-04    
Medline Journal Info:
Nlm Unique ID:  9607439     Medline TA:  Endocr Pract     Country:  United States    
Other Details:
Languages:  eng     Pagination:  249-53     Citation Subset:  IM    
Department of Pediatrics, St John Hospital, Detroit, Michigan 48236, USA.
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MeSH Terms
Child Development / physiology
Fibrous Dysplasia, Polyostotic / complications,  diagnosis,  genetics
GTP-Binding Protein alpha Subunits, Gs / genetics
Obesity, Morbid / complications,  congenital*,  diagnosis*,  genetics
Pseudohypoparathyroidism / complications,  congenital*,  diagnosis*,  genetics
Reg. No./Substance:
EC 3.6.1.-/GNAS protein, human; EC Protein alpha Subunits, Gs

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