Is congenital hypothyroidism genetic?

Oh, hi there! Let’s talk about congenital hypothyroidism. Don’t worry; we’ll make it fun – this article won’t be as boring as your last lab report!

What is Congenital Hypothyroidism?

“Congenita-what?” you might ask. Well, congrats on having normal thyroid function and being blissfully unaware of the term. However, for some unlucky souls out there with CH (not to be confused with ‘The CH’ from that creepy horror movie), their bodies don’t produce enough hormones from birth.

The good news is that missing babies are not linked to CH, so if you happen to lose yours in a Walmart parking lot while browsing for discounted toilet paper (like I did), their hypothyroidism had nothing to do with it.

Symptoms of CH

Just like how most people respond when they see me at 8 AM on Mondays in my pajamas buying caffeine from Starbucks…their body just doesn’t work optimally which can cause problems such as:

  • low body temperature
  • poor feeding
  • constipation
  • enlarged tongue (might explain why your friend always licks her plate)

If these symptoms ring alarm bells, then whaddya know – contact a doctor right away.

Is Congenital Hypothyroidism genetic?

Now back to our main question: is CH genetic? The answer is yes and no. Gotcha! Too many lemonades today and got carried away….uhm no I mean literally….

In around 80% of cases with familial occurrence, inheritance follows an autosomal recessive model where both parents pass down the mutated gene causing underproduction of thyroid hormones by encoding proteins involved in gland development or synthesis/secretion pathways.

Don’t let words like ‘autosomal’ scare you. It just means that the mutation causing CH is located on one of 22 non-sex chromosomes, and it takes two mutated copies – one from each parent – to develop syndromic or non-syndromic hypothyroidism.

The remaining 20% displays a dominant pattern with monoallelic mutations that are linked to thyroid gland agenesis (the failure of thyroid development) (a fancy way of saying “thyroid production- zero”). This form is associated with Pierre Robin sequence, cleft palate repair surgeries, as well as deafness due to incomplete cochlear formation in Pendred syndrome (nothing I’d want my name attached to).

What about siblings?

If you have been diagnosed then CH can be more common in siblings than general population, but don’t start suspecting them yet… wait for further proof first.

Autosome Mode of inheritancE Example Disorders
Chromosomes other than sex chromosomes Autosomal recessive(CH type1/2) Thyroid hormone synthesis /secretion disorders
Autosomal dominant(Pendred Syndrome Mondini malformation and enlarged vestibular aqueducts
Sex-linked X chromosome inheritance(duh!) X-linked recessive( Thyroxine-binding globulin deficiency

To put this information into simple language: basically, your disorder results from missing genetic instructions which cause underproduction of hormones.

Is age also a factor?

I’m afraid so! In addition to genetics playing a role in developing CH, environmental factors such as iodine deficiency have also been identified after birth .

But…that’s not all folks, some cases may go unnoticed in childhood if symptoms remain mild until puberty/adulthood when secondary sexual characteristics fail hence diagnosing happened late (it isn’t too bad though). Avoid use and abuse smoking/vaping ,pregnancy and parturition,infections or thyroid harmful medications they all make it worse for you.

Can CH be cured?

Well, when life hands us passion fruit smoothies instead of lemons, we can surely adjust our expectations accordingly….but hold on amigos- Don’t worry yet as CH is treatable once detected early and properly managed over time utilizing lifelong hormone replacement therapy with Levo-thyroxine which contain a synthetic form of the hormone thyroxine (i.e., T4)…otherwise known as “the reason why we have to eat yogurt at least 4 hours after taking medication” due to decreased absorption.

Let’s wrap up

In conclusion, while not always genetic in nature, congenital hypothyroidism is certainly influenced by genetics in many cases. If symptoms are present – such as poor feeding or constipation – contact your healthcare provider for further evaluation.

If you’ve already been diagnosed with CH (hey there fellow patients!), don’t fret: proper management can significantly reduce symptoms and improve overall quality of life. So pour yourself another cuppa joe and enjoy being an expert on Congenital Hypothyroidism!

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