Deficiency of aromatase

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Classification according to ICD-10
E25.8 Other adrenogenital disorders
ICD-10 online (WHO version 2019)

The aromatase deficiency is a very rare congenital disease with decreased estrogen and increased testosterone in the blood serum due to a malfunction of the production of the enzyme aromatase .

The aromatase deficiency prevents the conversion of testosterone into estradiol and leads to early virilization in women and is one of the causes of female pseudohermaphroditism .

The first description comes from 1978 by D. Mango and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, so far about 20 affected people have been described. Inheritance is autosomal - recessive .

root cause

The disease are mutations in the CYP19A1 - gene ( cytochrome P450 ) on chromosome 15 locus q21.2 basis that a lack of aromatase leads.

Other mutations in this gene can lead to the aromatase excess syndrome .

Clinical manifestations

Clinical criteria are:

In the last third of pregnancy , the increased testosterone level leads to signs of virilization in the pregnant woman, which regress spontaneously after birth .

In female newborns there are clear signs of virilization with clinically external intersexuality . Later, follicular cysts can develop into polycystic ovary syndrome , primary amenorrhea and a lack of puberty growth spurt are further abnormalities. If left untreated, osteoporosis can develop.

Cryptorchidism can sometimes be present in the male sex ; more often, disproportionate tall stature with delayed bone age , osteoporosis and genu valgum is not noticed until puberty .

diagnosis

In the female sex, the suspected diagnosis is usually made after birth, in the male sex only during adolescence or later due to unchecked length growth and delayed closure of the growth plates.

Differential diagnosis

The following are to be distinguished: adrenogenital syndrome , congenital hypogonadotropic hypogonadism and estrogen resistance in males.

therapy

In addition to a possible surgical correction, the treatment consists of hormone replacement therapy with estrogens and gestagens in girls and with estrogens in men.

literature

  • SU Miedlich, N. Karamooz, SR Hammes: Aromatase deficiency in a male patient - Case report and review of the literature. In: Bone. Vol. 93, December 2016, pp. 181-186, doi: 10.1016 / j.bone.2016.09.024 , PMID 27693882 .
  • B. Ludwikowski, S. Heger, N. Datz, A. Richter-Unruh, R. González: Aromatase deficiency: rare cause of virilization. In: European journal of pediatric surgery: official journal of the Austrian Association of Pediatric Surgery .. [et al] = Journal for Pediatric Surgery. Vol. 23, No. 5, October 2013, pp. 418-422, doi: 10.1055 / s-0032-1324798 , PMID 23093430 (review).
  • A. Belgorosky, G. Guercio, C. Pepe, N. Saraco, MA Rivarola: Genetic and clinical spectrum of aromatase deficiency in infancy, childhood and adolescence. In: Hormone research. Vol. 72, No. 6, 2009, pp. 321-330, doi: 10.1159 / 000249159 , PMID 19844120 (review).

Individual evidence

  1. ↑ a b c d e f Aromatase deficiency. In: Orphanet (Rare Disease Database).
  2. ↑ a b c Urology textbook
  3. ↑ D. Mango, A. Montemurro, P. Scirpa, A. Bompiani, E. Menini: Four cases of pregnancy with low estrogen production due to placental enzymatic deficiency. In: European journal of obstetrics, gynecology, and reproductive biology. Vol. 8, No. 2, April 1978, pp. 65-71, PMID 162557 .
  4. ↑ Aromatase deficiency.  In: Online Mendelian Inheritance in Man . (English).

Web links