Aromatase Deficiency

Description

Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.

Clinical Features

Top most frequent phenotypes and symptoms related to Aromatase Deficiency

  • Growth delay
  • Pain
  • Cryptorchidism
  • Obesity
  • Delayed skeletal maturation
  • Osteoporosis
  • Hypogonadism
  • Diabetes mellitus
  • Osteopenia
  • Genu valgum

And another 30 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Aromatase Deficiency Is also known as pseudohermaphroditism, female, due to placental aromatase deficiency, congenital estrogen deficiency.

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 Deficiency 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 Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA MYASTHENIC SYNDROME, CONGENITAL, 8; CMS8 DUBIN-JOHNSON SYNDROME; DJS ATAXIA-TELANGIECTASIA-LIKE DISORDER 1; ATLD1 BLAU SYNDROME; BLAUS

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