Document Detail

Growth and hormonal profile from birth to adolescence of a girl with aromatase deficiency.
MedLine Citation:
PMID:  23329769     Owner:  NLM     Status:  In-Data-Review    
Abstract Background: Aromatase deficiency is a rare autosomal recessive disorder caused by mutations in the CYP19A1 gene and characterized by lack of conversion of androgens to estrogens. It presents with virilization of pregnant mothers during the antenatal period, and virilization of female fetuses at birth. Affected subjects of either gender later manifest with features of estrogen deficiency and androgen excess. Patient and methods: We describe the clinical course of an Indian girl with aromatase deficiency from birth to 16 years of age. Estrogen replacement was begun at age 13.5 years. The child's growth, hormonal, radiological, and metabolic parameters were monitored throughout the course of treatment. Results: The child presented with obesity, tall stature, delayed bone age, osteoporosis, hyperinsulinemia with acanthosis nigricans, and hypergonadotropic hypogonadism with cystic ovaries. Estrogen replacement resulted in a plateauing of height, improvement of bone maturation, and pubertal progression with the disappearance of ovarian cysts. However, hyperinsulinemia and acanthosis nigricans persisted despite estrogen replacement and metformin. Genetic analysis revealed a homozygous arginine to cysteine substitution at codon 435 in exon 10 of CYP19A1. Conclusions: This is the first case of aromatase deficiency reported from India. This case highlights the role of estrogen in skeletal maturation and mineralization and the effect of estrogen deficiency and androgen excess over glucose metabolism in adolescent females.
Nishant Verma; Vandana Jain; Shweta Birla; Richa Jain; Arundhati Sharma
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of pediatric endocrinology & metabolism : JPEM     Volume:  25     ISSN:  0334-018X     ISO Abbreviation:  J. Pediatr. Endocrinol. Metab.     Publication Date:  2012  
Date Detail:
Created Date:  2013-01-18     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9508900     Medline TA:  J Pediatr Endocrinol Metab     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  1185-90     Citation Subset:  IM    
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