Aromatase Excess Syndrome

Description

Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all.

Clinical Features

Top most frequent phenotypes and symptoms related to Aromatase Excess Syndrome

  • Short stature
  • Neoplasm
  • Hypogonadism
  • Falls
  • Gynecomastia
  • Accelerated skeletal maturation
  • Precocious puberty
  • Acne
  • Decreased serum testosterone level
  • Menstrual irregularities

And another 2 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Aromatase Excess Syndrome Is also known as aexs, familial hyperestrogenism, hereditary prepubertal gynecomastia, aromatase activity, increased.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Aromatase Excess Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Abnormal/Ambiguous Genitalia Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
100 %
46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

WNT4, WT1, PSMC3IP, B3GLCT, RSPO1, CYP11B1, CYP19A1, HCCS
Specificity
13 %
Genes
100 %
46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

WNT4, WT1, PSMC3IP, B3GLCT, RSPO1, CYP11B1, CYP19A1, HCCS, NR5A1
Specificity
12 %
Genes
100 %
CYP19A1 Gene Sequencing.

By GeneDx (United States).

CYP19A1
Specificity
100 %
Genes
100 %
CYP19A1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

CYP19A1
Specificity
100 %
Genes
100 %
Aromatase deficiency (sequence analysis of CYP19A1).

By CGC Genetics (Portugal).

CYP19A1
Specificity
100 %
Genes
100 %
Female Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BMP15, SEMA3A, SEMA3E, FOXL2, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, TAC3, TACR3, WNT4, WT1, WWOX, ZP1, ARL6 , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
100 %
Male Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SEMA3A, SEMA3E, FOXL2, BRDT, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAR, AURKC, TAC3, TACR3, TAF4B, TEX11, WNT4, WT1, WWOX , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
100 %

We have 19 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like RETT SYNDROME, CONGENITAL VARIANT INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHH AUTISM, SUSCEPTIBILITY TO, X-LINKED 4; AUTSX4

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