title: Growth and hormonal profile from birth to adolescence of a girl with aromatase deficiency.
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.
  
  
  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.
authors: Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110 029, India.
authors: Nishant
authors: N
authors: Verma
authors: Vandana
authors: V
authors: Jain
authors: Shweta
authors: S
authors: Birla
authors: Richa
authors: R
authors: Jain
authors: Arundhati
authors: A
authors: Sharma
mesh_terms: D058489:46, XX Disorders of Sex Development / Q000188:drug therapy / Q000235:genetics*; D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis; D001141:Aromatase / Q000172:deficiency / Q000235:genetics; D015519:Bone Density; D002657:Child Development / Q000502:physiology*; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D015914:Estrogen Replacement Therapy; D004997:Ethinyl Estradiol / Q000627:therapeutic use; D005260:Female; D005438:Fludrocortisone / Q000627:therapeutic use; D006130:Growth Disorders / Q000188:drug therapy / Q000209:etiology*; D006177:Gynecomastia / Q000188:drug therapy / Q000235:genetics*; D006801:Humans; D006854:Hydrocortisone / Q000627:therapeutic use; D007248:Infertility, Male / Q000188:drug therapy / Q000235:genetics*; D007333:Insulin Resistance; D008297:Male; D008661:Metabolism, Inborn Errors / Q000188:drug therapy / Q000235:genetics*; D020125:Mutation, Missense; D010375:Pedigree; D012741:Sexual Maturation / Q000502:physiology
chemical_list: D004997:Ethinyl Estradiol; D001141:Aromatase; C561410:CYP19A1 protein, human; D005438:Fludrocortisone; D006854:Hydrocortisone