Aromatase inhibitors in pediatrics

  title={Aromatase inhibitors in pediatrics},
  author={Jan M. Wit and Matti Hero and Susan B. Nunez},
  journal={Nature Reviews Endocrinology},
Aromatase, an enzyme located in the endoplasmic reticulum of estrogen-producing cells, catalyzes the rate-limiting step in the conversion of androgens to estrogens in many tissues. The clinical features of patients with defects in CYP19A1, the gene encoding aromatase, have revealed a major role for this enzyme in epiphyseal plate closure, which has promoted interest in the use of inhibitors of aromatase to improve adult height. The availability of the selective aromatase inhibitors letrozole… 


Aromatase inhibitors are detoured from medical use in athletes, as indirect doping, as corrective treatment of paradoxical feminisation (gynecomastia), following administration of androgens and as “therapy” after doping cycle to restore endogenous testicular secretory activity.

Aromatase Inhibitors in the Treatment of Short Stature.

  • M. Hero
  • Biology
    Endocrine development
  • 2016
Findings from these randomized trials suggest that potent aromatase inhibitors increase predicted height, but final adult height data are scarce.

The use of aromatase inhibitors in boys with short stature: what to know before prescribing?

It is important to understand the pharmacokinetics of AIs, recognizing and avoiding possible drug interactions and offering a safer prescription profile of this class of aromatase inhibitors.

Long-Term Effect of Aromatase Inhibition in Aromatase Excess Syndrome

Early started, long-term inhibition by aromatase inhibitor anastrozole (1 mg daily) promotes adult height in boys with AEXS, and genetic analysis revealed upstream of CYP19A1 a 165,901 bp deletion in 4 German cousins and a 387,622 bp tandem duplication in a Japanese boy.

Understanding the pathological manifestations of aromatase excess syndrome: lessons for clinical diagnosis

Aromatase excess syndrome is characterized by pre- or peripubertal onset of gynecomastia due to estrogen excess because of a gain-of-function mutation in the aromatase gene (CYP19A1). Subchromosomal

[A clinical case of aromatase excess syndrome associated with 15Q21.2 duplication].

A clinical case of a 10-year-old patient with a late diagnosis of aromatase overactivity syndrome caused by a 15q21.2 microduplication of the CYP19A1 gene is described, and a brief review of the literature is conducted.

MECHANISMS IN ENDOCRINOLOGY: Estradiol as a male hormone.

The collective evidence suggests that, in men, E2 is an important hormone for hypothalamic-pituitary-testicular axis regulation, reproductive function, growth hormone-insulin-like growth factor-1 axisregulation, bone growth and maintenance of skeletal health, body composition and glucose metabolism, and vasomotor stability.

Estradiol as a male hormone

The collective evidence suggests that, in men, E2 is an important hormone for hypothalamic–pituitary–testicular axisregulation, reproductive function, growth hormone insulin-like growth factor-1 axis regulation, bone growth and maintenance of skeletal health, body composition and glucose metabolism and vasomotor stability.

Human 3β-hydroxysteroid dehydrogenase deficiency seems to affect fertility but may not harbor a tumor risk: lesson from an experiment of nature.

The testis with HSD3B2 deficiency due to the c.687del27 deletion does not express the defective protein, and this patient is unlikely to be fertile and his risk for gonadal malignancy is low.



Use of aromatase inhibitors to increase final height

  • L. Dunkel
  • Medicine, Biology
    Molecular and Cellular Endocrinology
  • 2006

Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens.

A novel mutation in the CYP19 gene in a sister and brother exhibited the cardinal features of the aromatase deficiency syndrome as recently defined and was reported on.

History of aromatase: saga of an important biological mediator and therapeutic target.

The saga of these studies of aromatase and the ultimate utilization of inhibitors as highly effective treatments of breast cancer and for use in reproductive disorders serves as the basis for this first Endocrine Reviews history manuscript.

Estrogen excess associated with novel gain-of-function mutations affecting the aromatase gene.

Heterozygous inversions in chromosome 15q21.2-3, which caused the coding region of the aromatase gene to lie adjacent to constitutively active cryptic promoters that normally transcribe other genes, resulted in severe estrogen excess owing to the overexpression of aromat enzyme in many tissues.

Aromatase inhibitors in ovulation induction.

An update on the use of aromatase inhibitors for induction of ovulation is presented and several new areas of potential interest are discussed, either alone or together with recombinant follicle-stimulating hormone (FSH) for infertility treatment.

Dysmetabolic syndrome in a man with a novel mutation of the aromatase gene: effects of testosterone, alendronate, and estradiol treatment.

This new case of aromatase deficiency confirms previous data on bone maturation and mineralization, and reveals a high risk for the precocious development of cardiovascular disease in young aromat enzyme-deficient men.

The ovarian phenotype of the aromatase knockout (ArKO) mouse

Impact of estrogen replacement therapy in a male with congenital aromatase deficiency caused by a novel mutation in the CYP19 gene.

In this rare incidence of estrogen deficiency, estrogen replacement demonstrated its importance for bone mineralization and maturation and glucose metabolism in a male carrying a novel mutation in the CYP19 gene.

Effect of testosterone and estradiol in a man with aromatase deficiency.

The responses to androgen and estrogen in a man with a novel, homozygous inactivating mutation of cytochrome P-450 aromatase suggest a crucial role of estrogen in skeletal maturation.