Category Archives: genetic and metabolic disorders

Can my child have thyroid related problem at birth? YES, read on.

Congenital Hypothyroidism (CH)

Congenital Hypothyriodism    

Hypothyroidism is condition in which thyroid gland does not produce thyroid hormone in sufficient quantity. And if this condition is present right from birth, it is called Congenital Hypothyroidism (CH).

Congenital Hypothyroidism (CH) is most common preventable cause of Mental retardation in children.

It is also known as Cretinism, Endemic Cretinism (Iodine Deficiency), Congenital Myxedema.

Hypothyroidism is usually an age related change seen in older people, especially ladies. However its incidence is on a rise in younger population too.

physiology of CH

Newborn babies are also vulnerable; more so because there are no specific symptoms which can lead to early diagnosis. Because of this reason most of the private hospitals are now doing cord blood testing (Newborn Screening) to rule out thyroid related illnesses.

Good news for parents is that it can be diagnosed easily by testing (Newborn screening) and can be treated comfortable; so that child can live a normal life just like any other baby.

Hypothyroid in children

Signs and symptoms

Most of the children are asymptomatic (due to trans-placental transfer of maternal thyroid hormones)

If symptomatic; then following are the features

  • Prolong Jaundice during first few weeks of life (earliest sign)
  • During first month of life there is feeding difficulties (Sluggishness , sometimes even choking spells during nursing)
  • Lack of interest, Somnolence (sleepy all the time), large head size (due to myxedema).
  • Breathing difficulties due to large protruded tongue, also noisy breathing, nasal obstruction
  • During 1st year of life babies are sleepy all the time, have poor appetite, cries very little and sluggish most of the time.
  • Large protruded abdomen mostly has umbilical hernia.
  • A puffy appearance to the face. Dull looking
  • Cold to touch and mottled skin, edema of genital region and extremities
  • Constipation not responding to treatment
  • Poor muscle tone
  • Anemia can be there
  • Developmental delay
  • Slow heart rate


In children and teenage it can lead to

  • Poor growth leading to in short stature
  • Delayed eruption of teeth
  • Delayed puberty
  • Poor mental development

anatomy of thyroid gland

Thyroid gland is a butterfly- shaped organ at base of the neck.



  • Absent (agenesis) or (abnormal location) ectopic in location or underdeveloped
  • Genetic causes:  about 15% of cases are thought to be inherited
  • Iodine deficiency in mothers
  • Use of anti thyroid medicines in mothers

 Diagnosis: It is done by newborn screening in most cases

newborn screening


  • Hormone replacement is the treatment (Safe and easy in children too)
  • L-thyroxine tablets are small and can be crushed into food or dissolved into a small amount of formula, juice or other liquid. No liquid formulation is available.    thyroid_treatment
  • Child specialist along with Pediatric Endocrinologist will treat children with thyroid or any other hormonal problems
  • Treatment to be started as soon as diagnosis made; since damage to brain once done can never be reversed
  • Overdosing of L-thyroxine in children can lead to
    • Faster heart rate
    • Loose motions
    • Poor sleep
    • Shakiness or tremors
    •  Soy-based formulas and Iron supplements can reduce the absorption of thyroid hormone.
    • Regular monitoring of child every few months
    • Developmental assessment

Congenital Hypothyroidism, before and after treatment (


Q. My child is too small? What if I do not treat my child?

Ans. It can lead to Mental retardation and developmental delay in children. Damage once done can never be reversed.

Q. Is it genetic disease?

Ans. About 15% cases are inherited and genetic counseling need to be done. Genetic testing can be done using blood sample.

Q. What are the tests need to be done to confirm it?

Ans.  If newborn screening is positive:

  • then blood tests are repeated after 72 hours of life which includes TSH, T4,T3.
  • Thyroid Ultrasound and Scan need to be done in certain cases

diagnosis of CH

Q. Can it be diagnosed during pregnancy?

Ans. NO

Q. Can elder siblings also have it?

Ans. If elder siblings are growing well, healthy and developmentally normal. Most likely the answer is NO.

For Any queries related thyroid disease or you want to discuss any other health related issues feel free to contact MAYA CLINIC. Or discuss with your child specialist.


Dr Rahul Varma


Could my child have Diabetes ?

Diabetes in Children


Diabetes Mellitus (DM); name itself is  fearful and more so if in context to children. It is a metabolic disorder with high blood sugar level. Major Symptoms are increased urination, increased thirst and hunger. Insulin is the only way by which body can use sugar. If insulin decreases sugar rises.


4 types: three most common types are type 1, type 2, and gestational diabetes. 4th is due rare genetic disorders

Most common in children is DM type 1 (Insulin dependent, IDDM or Juvenile diabetes).


Type 1DM:


It is an autoimmune disorder in which body starts to destroy its own cell (beta cells of pancreas that makes insulin). Pancreas loses its ability to produce Insulin.

Type 1 is less common than type 2 DM.

2 main factors: genetics and the environment (certain viruses, toxins which can trigger autoimmune response).


Type 2 DM:


More common in adults but nowadays seen in children too.

Pancreas still makes insulin but is not effective (Insulin resistance)


It is hard to diagnose in adolescent; as some cases are asymptomatic.

Lifestyle changes (which are leading to unhealthy gain in weight) like

  • Decrease physical activities
  • More screen time
  • Fast food

It can be managed with Exercise and change in diet but in some cases medicine or Insulin injections are needed.

Gestational DM is diabetes that develops during pregnancy.





Chart is depicting few signs and symptoms of adults too.


  • frequent peeing (urination) in large amounts (polyuria)
  • increase in thirst (polydipsia)
  • dry mouth or throat
  • weight loss
  • increase in appetite (polyphagia)
  • feeling tired or weak
  • diaper rash that doesn’t improve with medicated cream



  • weight loss
  • stomach aches
  • nausea and vomiting
  • heavy, rapid breathing (Kussmaul breathing)
  • drowsiness



Random Blood sugar level > 200mg/dl

Urine test for ketones

It will need further evaluation under guidance of child specialist or Pediatric endocrinologist.




Life changes full circle at the time when diagnosis is confirmed. 

Coping with the diagnosis is also difficult to start with as parents are in denial /shock. It usually is followed by sadness/fear/anxiety. Some will have feeling of guilt and some will have anger.


Parents (and children as well):

  • Need to learn the skills needed to take care of child (injection insulin, measure blood sugar at home etc)
  • Face Emotional Disturbance
  • Life style changes (dietary changes, need to count calories.)





  • Maintain the blood sugar level as close to normal as possible at all times to avoid complications.
  • Coping well with disease and trying to have a healthy and productive life.


Basic treatment of type 1 diabetes:

  • Insulin ( via injections or pump)
  • Balanced meal with help of dietician
  • Monitoring of blood sugar levels
  • Regular check up

Nursing Intervention Nursing Care Plan for Children with Diabetes Mellitus


Basic Treatment Type 2 diabetes:


  • Healthy Lifestyle
  • Increased physical activity
  • Balanced food
  • Weight loss
  • In some cases medications


Dietician: Proper Meal plan is needed to have a calorie count.


Growth and Development should not be affected and child should be able to live a healthy life.

prevention at school

School life should also be not affected.

For any queries refer to your child specialist or Pediatrics endocrinologist. Feel free to contact Maya Clinic .


Dr Rahul varma

“Healthy Kids, Happy Family”


Thalassemia in children





It is genetic disorder of blood in which abnormal Hemoglobin is made leading to decrease in oxygen carring capacity of red blood cell.  RBC (red blood cells) are destroyed at faster rate leading to anemia and need for repeated blood transfusion.

  images (1)

This inherited disorder is carried in genes and passed on from one generation to next generation. People who are Carrier may have no disease but when both parents are carrier, it can pass on to children.


2 types of Thalassemias are there: Alpha and Beta.

We will discuss beta thalassemia in detail.


There are 3 types of beta thalassemia.

  1. Beta thalassemia minor, or beta thalassemia trait, happens when one of the beta globin genes is mutated. Milder form, usually needing no treatment
  2. Beta thalassemia major (Cooley’s anemia) happens when both of the beta globin genes are mutated. Most Serious and can be life threatening if repeated blood transfusion not given
  3. Beta thalassemia intermedia may also occur when both of the beta globin genes are mutated, but less severe. Usually moderate symptoms and sometimes need blood transfusion.


13Beta Thalassemia Signs Symptoms Treatment

Common symptoms of beta thalassemia include:

  • fatigue, weakness, or shortness of breath
  • a pale appearance or a yellow color to the skin (jaundice)
  • Anemia
  • Poor growth
  • irritability
  • deformities of the facial bones
  •  abdominal swelling (liver and spleen enlarged)
  • Delayed puberty
  • Repeated infections



CBC, Hb Electrophoresis


11 16 

Both parents should be tested for Thalassemia before or during early pregnancy. If both parents are carriers of the beta thalassemia disorder, doctors will need to conduct more tests on a fetus before birth(CVS / Amniocentesis).


People who carry beta thalassemia genes should seek Gentic counseling, if they’re considering having children.



Children with Thalassemia major require life-long , ongoing medical care which include blood transfusions.


Standard Treatment:

  • Repeated Blood Transfusions
  • Iron Chelation Therapy
  • Floic acid supplements


Cure:    Stem cell Transplant with HLA matched donor

Future:  Gene Therapy

Research is going on. It may be possible to insert normal hemoglobin gene into stem cells in bone marrow. This will allow children with thalassemias to make their own healthy red blood cells and hemoglobin.



Dr. Rahul Varma


Bed wetting: how to deal with this very common illness

Bed wetting: how to deal with this very common illness


“Bedwetting is a topic people often shy away from. Parents may be embarrassed to broach the subject with their child specialist/pediatrician, and doctors typically assume that if a child is wetting the bed, the parents will inquire about it. Parents need to be proactive and talk with their child’s pediatrician.”


Bedwetting (sometimes called nocturnal enuresis) is a common condition that affects many children and young people. Although most children grow out of it, this may take many years and some may need help to become dry at night. It can be very distressing and have a considerable impact on the child or young person. It can also be very stressful for their family.

bed-wetting Bedwetting-Boy-D1

Although bedwetting is rarely caused by a serious medical disorder and often resolves itself, it’s a condition that can create anxiety, embarrassment, and shame. These feelings are heightened when the child is invited to a sleepover —by relatives, friends and during family marriage.

The combination of several factors is the usual culprit that leads to bedwetting: an increased production of urine during the night, a small bladder capacity, poor arousal from sleep, and constipation.


Parents should keep two issues in mind.

  • First, bedwetting is common, and children should not be punished for it.
  • Second, parents should always remember that bedwetting is a medical problem — it happens because a child’s brain and bladder are not communicating with each other at night.


What Parents Need to Know

Most frequently asked questions about bedwetting.

  1. Does bedwetting run in families?
    Most children who wet the bed have at least one parent or close relative who had the same problem as a child. Approximately 45 percent of children wet the bed if one parent wet the bed as a child, and 75 percent wet the bed if both parents were bedwetters.
  2. Is bedwetting more common in boys or girls?
    Prior to age 13, boys wet the bed twice as often as girls. By the time adolescence rolls around, these numbers equal out. Interestingly, girls are more likely than boys to have other bladder symptoms, such as urgency, frequency, or daytime wetting.
  3. Does bedwetting go away on its own?
    Every year, 15 percent of children older than 5 who wet the bed become dry with no intervention. Although children usually follow the same pattern as their family members, this is not always the case. Because there is no way to predict when a child will overcome his wetting, I recommend that children start a bedwetting program if they’re motivated to become dry.
  4. How can I tell if my child is motivated to work on becoming dry at night?
    There are four signs you can look for to see if your child is ready to work on becoming dry:

    1. He starts to notice that he’s wet in the morning and doesn’t like it.
    2. He tells you he doesn’t want to wear Pull-Ups/ diapers anymore.
    3. He tells you he wants to be dry at night.
    4. He doesn’t want to go on sleepovers because he’s wet at night.
  5. Do you recommend restricting fluids in the evening to keep children dry?
    Some people think restricting fluids after dinner helps children stay dry. Although this helps some children, it doesn’t work for most — if a child limits fluids, he may wet the bed with four ounces of urine instead of six, but he’s usually still wet. My approach to restricting fluids is practical. If a child tells me that limiting fluids helps him stay dry, I give it my “OK.” Otherwise, I generally don’t recommend this approach. Stopping tea, coffee, milk at night do help.
  6. What is the best way to treat bedwetting?
    Behavioral Therapy is best approach with help of bedwetting alarm; it yields the best results. Bedwetting alarms are now available in India. This device teaches the child’s brain to pay attention to his bladder while sleeping. Bedwetting alarms have two basic parts. (1) a wetness sensor that detects urine and (2) an alarm unit that produces a loud sound when a child wets the bed.
  7. How does the bedwetting alarm work?

alarm   images

The alarm’s sensor has the ability to detect small amounts of moisture. When a child wets the bed, the urine in his underpants turns on the alarm. When the alarm goes off it awakens the child so he can go to the bathroom and finish urinating in the toilet. After weeks of hearing the alarm, the child’s brain learns to pay attention to the full bladder signals and he wakes up before wetting the bed.

9. Are drugs an effective way to treat bedwetting?

The medication that is prescribed most frequently is called desmopressin (brand name: DDAVP). Desmopressin is a manufactured form of the hormone the brain produces to decrease urine production at night. The effects of desmopressin only last for a short period of time, and children usually relapse when medication is stopped. For this reason, doctors generally recommend this for sleepovers, vacations, or special occasions.

Words of Encouragement for Children

images (2)

Following are the strategies to help ease your child’s anxiety.

  • Do not punish or shame children for being wet at night.
  • Remind children that bedwetting is no one’s fault.
  • Let children know that lots of kids have the same problem.
  • Let children know if anyone in the family wet the bed growing up.
  • Maintain a low-key attitude after wetting episodes.
  • Praise children for success in any of the following areas: waking up at night to urinate, having smaller wet spots or having a dry night.
  • Encourage children to go on sleepovers.


  • Behavior therapy is main stay of treatment. Positive attitude and patience on part of parents is the biggest virtue on basis of which successful treatment depends.
  • Have a proper schedule; give dinner 2 hours prior to sleep and wake child once after going to sleep for toilet. Eg. If child sleeps around 11 pm, then dinner should be taken by 9 pm. Child should be asked to go to toilet before going to sleep and put an alarm around 1 am – 2 am. Waking child only once during night gives best result as repeatedly waking child during night have a bad impact on child’s behavior and may make child stubborn.
  • More than 70 to 80% children recover with this lifestyle only; but parents and every member of family need to support the child and encourage him. He should not be taunted or scolded. Otherwise all the hard work put by parents will go waste if you beat your child or scold your child in between sometimes.
  •  Do not discuss about bedwetting with others (relatives and friends) in front of child. Child feel embarrassed and it has devastating effect on child’s psychology.
  • Remember he/she is your child and not doing it deliberately. If you guys do not control your anger and frustration, your child will never come out of it. And your  personal or professional anger or frustration should not disturb your relationship with your child.
  • Drinks containing caffeine (such as cola, tea and coffee) should be avoided.
  • Milk should be given during day only and not during evening or night.
  • The child or young person should be given advice on the importance of using the toilet regularly during the day and you should encourage use of the toilet at regular intervals (around four to seven times a day, including just before bed). This should continue alongside any other treatment for bedwetting.
  • Reward System: Rewards should be given for agreed behavior  rather than dry nights, for example, they may be given for drinking the correct amount during the day, using the toilet before sleep, helping to change wet sheets, and, if appropriate, taking tablets or using an alarm correctly. These should be agreed with the child or young person beforehand. Systems that punish or take away rewards should not be used.
  • Punishment is absolutely NO. All your gains will vanish if you keep punishing child even once in a while. If punishment continues, your child will become more stubborn and as they grow old more behavior issues creep up like aggressive behavior, anti social behavior, drugs etc.
  • Desmopressin treatment:  A drug called desmopressin should be offered  to treat bedwetting under supervison of child specialist,
    • If fast or short-term improvement is the priority.
    • Other drugs like anticholenergic along with desmopressin and Imipramine can also be given but only after consulting someone who is expert in this field as these drugs need to be used with caution.


Feel free to contact Maya clinic for further queries regarding this topic.

At Maya Clinic, we have Child Development and Behavior Specialist; Dr. Smitha Sairam. She can be consulted with prior appointment only.

Stay Healthy


Dr. Rahul Varma