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Disease Profile

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Infancy

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ICD-10

E25.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

POR deficiency; Congenital adrenal hyperplasia due to cytochrome POR deficiency; PORD;

Categories

Congenital and Genetic Diseases; Endocrine Diseases; Female Reproductive Diseases;

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 95699

Definition
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations.

Epidemiology
It has an annual incidence of 1/100,000-200,000 live births.

Clinical description
Prenatal androgen excess is responsible for severe virilization of external genitalia in girls and undervirilization in boys manifesting as a micropenis to severe perineoscrotal hypospadias. Craniofacial malformations observed include large domed forehead, flat nose, midface hypoplasia with proptosis and dysplastic ears and other features similar to those seen in Antley-Bixler syndrome (see this term).

Etiology
This form of CAH is caused by a mutation in the POR gene located on chromosome 7 q11.2.

Genetic counseling
The disease follows an autosomal recessive pattern of inheritance.

Visit the Orphanet disease page for more resources.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of the labia majora
Abnormality of vaginal lips
0012881
Abnormality of the menstrual cycle
0000140
Absence of secondary sex characteristics
0008187
Accelerated skeletal maturation
Advanced bone age
Early bone maturation

[ more ]

0005616
Adrenocorticotropic hormone excess
0011749
Adrenogenital syndrome
0000840
Ambiguous genitalia, female
Atypical appearance of female genitals
0000061
Clitoral hypertrophy
Enlarged clitoris
0008665
Congenital adrenal hyperplasia
0008258
Decreased serum estradiol
0008214
Decreased serum testosterone level
Decreased serum testosterone levels
Low serum testosterone level
Low serum testosterone levels

[ more ]

0040171
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay

[ more ]

0000823
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development

[ more ]

0002750
Enlarged polycystic ovaries
Enlarged ovaries with cysts
0008675
Female external genitalia in individual with 46,XY karyotype
0008730
Hyperpigmented genitalia
Increased genital pigmentation
0030258
Increased serum testosterone level
0030088
Maternal virilization in pregnancy
0008072
Osteoporosis
0000939
Premature adrenarche
0012412
Tall stature
Increased body height
0000098
30%-79% of people have these symptoms
Abnormal sex determination
0012244
Ambiguous genitalia, male
Ambiguous genitalia in males
0000033
Androgen insufficiency
0008226
Arachnodactyly
Long slender fingers
Spider fingers

[ more ]

0001166
Bifid scrotum
Cleft of scrotum
0000048
Choanal atresia
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity

[ more ]

0000453
Choanal stenosis
Narrowing of the rear opening of the nasal cavity
0000452
Clinodactyly
Permanent curving of the finger
0030084
Craniosynostosis
0001363
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Decreased circulating cortisol level
Low blood cortisol level
0008163
Decreased fertility in females
Reduced fertility in females
0000868
Decreased fertility in males
0012041
Decreased testicular size
Small testes
Small testis

[ more ]

0008734
Ectopic adrenal gland
Abnormal adrenal gland position
0011742
Female sexual dysfunction
0030014
Flexion contracture
Flexed joint that cannot be straightened
0001371
Generalized hyperpigmentation
0007440
Hypoplasia of the vagina
Underdeveloped vagina
0008726
Increased circulating ACTH level
High blood corticotropin levels
0003154
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Male pseudohermaphroditism
0000037
Micropenis
Short penis
Small penis

[ more ]

0000054
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface

[ more ]

0011800
Pear-shaped nose
0000447
Perineal hypospadias
0000051
Short stature
Decreased body height
Small stature

[ more ]

0004322
Urogenital sinus anomaly
0100779
5%-29% of people have these symptoms
Acne
0001061
Aortic root aneurysm
Bulge in wall of root of large artery that carries blood away from heart
0002616
Hirsutism
Excessive hairiness
0001007
Hypertension
0000822
Percent of people who have these symptoms is not available through HPO
Ambiguous genitalia
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia

[ more ]

0000062
Autosomal recessive inheritance
0000007

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    In-Depth Information

    • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
    • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
    • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.