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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Fei Hong / Mericq, Veronica / Toppari, Jorma


IMPACT FACTOR 2017: 1.086

CiteScore 2017: 1.07

SCImago Journal Rank (SJR) 2017: 0.465
Source Normalized Impact per Paper (SNIP) 2017: 0.580

Online
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2191-0251
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Volume 25, Issue 11-12

Issues

Growth and hormonal profile from birth to adolescence of a girl with aromatase deficiency

Nishant Verma
  • Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110 029, India
  • The case was clinically managed by VJ, RJ, and NV.
  • The manuscript was drafted by NV, VJ, and SB with contributions from all the authors.
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Vandana Jain
  • Corresponding author
  • Division of Pediatric Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110 029, India
  • The case was clinically managed by VJ, RJ, and NV.
  • The manuscript was drafted by NV, VJ, and SB with contributions from all the authors.
  • VJ will act as guarantor.
  • Email
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Shweta Birla
  • Department of Anatomy, All India Institute of Medical Sciences, New Delhi 110 029, India
  • Genetic analysis was performed by SB and AS.
  • The manuscript was drafted by NV, VJ, and SB with contributions from all the authors.
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Richa Jain
  • Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110 029, India
  • The case was clinically managed by VJ, RJ, and NV.
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Arundhati Sharma
  • Department of Anatomy, All India Institute of Medical Sciences, New Delhi 110 029, India
  • Genetic analysis was performed by SB and AS.
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
Published Online: 2012-10-02 | DOI: https://doi.org/10.1515/jpem-2012-0152

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.

Keywords: aromatase deficiency; bone mineral density; estrogen replacement; insulin resistance

About the article

Corresponding author: Dr. Vandana Jain, Division of Pediatric Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110 029, India, Phone: +91-11-26594345, Fax: +91-11-26588641


Received: 2012-05-13

Accepted: 2012-08-31

Published Online: 2012-10-02

Published in Print: 2012-12-01


Citation Information: Journal of Pediatric Endocrinology and Metabolism, Volume 25, Issue 11-12, Pages 1185–1190, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2012-0152.

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