Cytomegalic Congenital Adrenal Hypoplasia

Description

Congenital adrenal hypoplasia (AHC) is a rare disorder that can be inherited in an X-linked or autosomal recessive (see {240200}) pattern. In X-linked AHC, primary adrenocortical failure occurs because the adrenal glands lack the permanent adult cortical zone. The remaining cells are termed 'cytomegalic' because they are larger than typical fetal adrenal cells (Hay et al., 1981; Reutens et al., 1999).Patients with AHC usually present in early infancy with primary adrenal failure. Hypogonadotropic hypogonadism (HHG) is a hallmark of the disorder, and is recognized during adolescence because of the absence or interruption of normal pubertal development. Abnormal spermatogenesis has also been observed in these patients. Milder forms of the disease have been described, with adrenal insufficiency sometimes occurring in childhood or even early adulthood. A few cases of partial HHG have been reported (summary by Raffin-Sanson et al., 2013). Transient precocious sexual development in infancy or early childhood can be a prominent feature of AHC (Landau et al., 2010).A contiguous gene syndrome involving a combination of congenital adrenal hypoplasia, glycerol kinase deficiency (OMIM ), and Duchenne muscular dystrophy (DMD ) is caused by deletion of multiple genes on chromosome Xp21 (see {300679}).

Clinical Features

Top most frequent phenotypes and symptoms related to Cytomegalic Congenital Adrenal Hypoplasia

  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Cryptorchidism
  • Vomiting
  • Hypogonadism
  • Hypoglycemia
  • Muscular dystrophy
  • Delayed puberty
  • Asthma

And another 25 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

Cytomegalic Congenital Adrenal Hypoplasia Is also known as ahch, cytomegalic adrenocortical hypoplasia, x-linked congenital adrenal hypoplasia, adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism, ahc with isolated gonadotropin deficiency, addison disease, x-linked, ahx, ahc with hhg.

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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Cytomegalic Congenital Adrenal Hypoplasia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Primary Adrenal Insufficiency Evaluation.

By Athena Diagnostics Inc (United States).

AIRE, ABCD1, NR0B1
Specificity
34 %
Genes
100 %
NR0B1 (Adrenal Hypoplasia Congenita) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

NR0B1
Specificity
100 %
Genes
100 %
Isolated X-Linked Adrenal Hypoplasia Congenita.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States).

NR0B1
Specificity
100 %
Genes
100 %
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 %
Hypogonadotropic Hypogonadism Sequencing Panel.

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

TAC3, TACR3, WDR11, PROKR2, IL17RD, PROK2, CHD7, FEZF1, NSMF, FGF17, FGF8, FGFR1, FSHB, GNRH1, GNRHR, KISS1R, ANOS1, LHB, NR0B1
Specificity
6 %
Genes
100 %
Hypogonadotropic Hypogonadism Deletion/Duplication Panel.

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

TAC3, TACR3, WDR11, PROKR2, IL17RD, PROK2, CHD7, FEZF1, NSMF, FGF17, FGF8, FGFR1, FSHB, GNRH1, GNRHR, KISS1R, ANOS1, LHB, NR0B1
Specificity
6 %
Genes
100 %
NR0B1. MLPA testing.

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

NR0B1
Specificity
100 %
Genes
100 %
NR0B1. Complete sequencing.

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

NR0B1
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

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