This can lead to symptoms like facial hair, irregular periods, and infertility in females.
Males may experience acne, early balding, andprostatitisor have no symptoms at all.
The treatment differs from classic CAH and may involveoral hormonal contraceptivesorandrogen blockers.
Eric Audras / ONOKY / Getty Images
It also explains how LOCAH is diagnosed and treated.
What Causes Late-Onset Congenital Adrenal Hyperplasia?
Late-onset and classic congenital adrenal hyperplasia are both genetic disorders that suppress the production of the stress hormonecortisol.
This is due to an enzyme called 21-hydroxylase which plays a key role in the synthesis of cortisol.
How Common Is LOCAH?
People of Ashkenazi Jewish, Hispanic, Mediterranean, Middle Eastern, and Alaskan Eskimo descent are most affected.
(In contrast, classic CAH occurs in roughly one of every 14,000 children.)
Pattern of Inheritance
As with classic CAH, LOCAH is sparked by a mutation of theCYP21A2gene.
This is the gene encoded with the information to produce 21-hydroxylase.
TheCYP21A2mutation is passed from parents to children in anautosomal recessive pattern.
If only one copy is passed, the child will be a “carrier” without any symptoms.
This is especially true with males.
Comparatively, females are more impacted by LOCAH than males.
One of the earliest possible signs in females during puberty ispremature pubarche.
This is the term that describes sexual maturation that occurs well before what would normally be expected.
High testosterone levels can also lead tochronic acneduring puberty and well into adulthood.
What differentiates the two is the absence ofovarian cystswith LOCAH.
Beyond this, LOCAH and PCOS can be difficult to distinguish without blood tests.
In later life, LOCAH can also be symptomatic.
If symptoms were to occur, they might regarded as normal or attributed to other causes.
Possible symptoms of LOCAH in males include:
How Is Late-Onset Congenital Adrenal Hyperplasia Diagnosed?
Because LOCAH is milder than classic CAH with fewer overt symptoms, it can often go diagnosed.
In fact, some studies suggest that up to 90% of females with LOCAH remain undiagnosed.
How Is Late-Onset Adrenal Hyperplasia Treated?
Many people have no symptoms.
LOCAH can be diagnosed with blood tests.
In:Congenital Adrenal Hyperplasia: Diagnosis and Emergency Treatment.
South Dartmouth, MA: MDText.com, Inc.; 2024.
2023 Oct 18;108(11):2871-2878. doi:10.1210/clinem/dgad270
