Paula and Bobby
Parents of Lillie
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.
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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:
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.
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