Adrenal Hypoplasia, Congenital, with Absent Pituitary Luteinizinghormone

What is Adrenal Hypoplasia, Congenital, with Absent Pituitary Luteinizinghormone?

Adrenal Hypoplasia, Congenital, with Absent Pituitary Luteinizinghormone is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.

Congenital adrenal hypoplasia (CAH) is of two histological types; in the cytomegalic type the permanent cortex is absent and is replaced by disorganised fetal tissue showing cytomegaly. This is usually X-linked. In the second type, which is autosomal recessive, the adrenal cortex is of the 'miniature' adult type. In both types the CNS is normal. The subject of this entry was a boy with CAH of the adult type who also had a micropenis and undescended testes with deficient Leydig cells. His two sisters were similarly affected. The CNS was normal, but all three died within the first weeks of life. Glycerol kinase was a little reduced, but RFLP studies and pedigree analysis excluded X-linkage. Further studies showed a selective absence of luteinizing hormone.

* This information is courtesy of the L M D.

If you find a mistake or would like to contribute additional information, please email us at: [email protected]

What gene changes cause Adrenal Hypoplasia, Congenital, with Absent Pituitary Luteinizinghormone?

The syndrome is inherited in the following inheritance pattern/s:

Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.


In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

OMIM Number - 202150 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:
N/A

What are the main symptoms of Adrenal Hypoplasia, Congenital, with Absent Pituitary Luteinizinghormone?

The typical symptoms of the syndrome are:
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Abnormality of metabolism/homeostasis, Autosomal recessive inheritance

How does someone get tested for Adrenal Hypoplasia, Congenital, with Absent Pituitary Luteinizinghormone?

The initial testing for Adrenal Hypoplasia, Congenital, with Absent Pituitary Luteinizinghormone can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

Get Faster and More Accurate Genetic Diagnosis!

More than 250,000 patients successfully analyzed!
Don't wait years for a diagnosis. Act now and save valuable time.

Start Here!

"Our road to a rare disease diagnosis was a 5-year journey that I can only describe as trying to take a road trip with no map. We didn’t know our starting point. We didn’t know our destination. Now we have hope."

Image

Paula and Bobby
Parents of Lillie

What is FDNA Telehealth?

FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.

With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.

Benefits of FDNA Telehealth

FDNA icon

Credibility

Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.

FDNA icon

Accessibility

FDNA Telehealth provides facial analysis and screening in minutes, followed by fast access to genetic counselors and geneticists.

FDNA icon

Ease of Use

Our seamless process begins with an initial online diagnosis by a genetic counselor and follows by consultations with geneticists and genetic testing.

FDNA icon

Accuracy & Precision

Advanced artificial intelligence (AI) capabilities and technology with a 90% accuracy rate for a more accurate genetic analysis.

FDNA icon

Value for
Money

Faster access to genetic counselors, geneticists, genetic testing, and a diagnosis. As fast as within 24 hours if required. Save time and money.

FDNA icon

Privacy & Security

We guarantee the utmost protection of all images and patient information. Your data is always safe, secure, and encrypted.

FDNA Telehealth can bring you closer to a diagnosis.
Schedule an online genetic counseling meeting within 72 hours!