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Meena Persaud

2016/06/01

Common congenital anomalies in the


Neuroendocrine System and its embryological
basis
Abstract
Neural tube defects in the nervous system and endocrine system defects are
common congenital anomalies but vary in different countries and races.
Failure of the neural tube to close causes congenital anomalies like
anencephaly and spinal bifida. The endocrine system is important for the
balance of hormones in the bloodstream. There may be a deficient or high
production of the certain hormones which signals their respective glands to
respond/correct the problem. Severe problems may arise if the hormonal
imbalance cant be corrected due to abnormal development of the endocrine
glands.

Nervous System
Anencephaly
Anencephaly is also known as open skull. It is the incomplete development
of the brain and the skull bones. Since the anterior neuropore of the neural
tube fails to close by day 22 - 24, the developing brain and spinal cord are
exposed in the amniotic fluid causing the nervous tissue to degenerate. 1This
is why most parts of the babies brains (cerebrum and cerebellum) are
reduced or missing. This defect occurs during the 3rd and 4th week after
conception.2 It is not inherited but parents with an anencephaly child have a
1 "Anencephaly". My.clevelandclinic.org. N.p., 2016. Web. 31 May. 2016.
2 "Anencephaly". My.clevelandclinic.org. N.p., 2016. Web. 31 May 2016.

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2016/06/01

high risk of getting another child with the same defect. Most babies die
before birth or just after. Anencephaly is caused by a deficiency of folic acid.

Fig 1: showing normal development of a brain and its congenital defect,


anencephaly without any brain formation.

Spina Bifida Occulta


This is another neural tube defect. Spina bifida is a neural tube defect which
is the incomplete development of the fetus' spine during the first month of
pregnancy. By the first 4 weeks, the posterior neuropore of the neural tube
closes but with the defect it does not close properly and causes spinal cord
disorder and in the spinal bones.3 Spinal cord may sometimes pierce through
the opening of the back. This defect varies from mild to severe symptoms
such as nerve damage and paralysis. Spina bifida is caused by a deficiency
of folic acid prior and during pregnancy which is responsible for cell growth
and development, and tissue formation. High fever and drug medication for
epilepsy during pregnancy can contribute to having baby with spina bifida.
Spina bifida can be treated through surgery but it is not 100% reliable on
fully rectifying the defect.

3 "Spina Bifida - Mayo Clinic". Mayoclinic.org. N.p., 2016. Web. 31 May. 2016.
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Fig 2: Showing the difference between the development of a normal spine and its
congenital defect.

Hydrocephalus

Hydrocephalus is an abnormal increase of cerebrospinal fluid within the


cranial cavity. There is expansion of the cerebral ventricles, enlargement of
the skull and especially the forehead, and atrophy of the brain. The ventricles
and choroid plexus are originated from central canal of the neural tube.5
As the different parts of the brain are developed, the ventricles are
connected by passageways called foramen. Specialized Ependymal cells are
found in the roof of the lateral, 3rd, and 4th ventricles so as to perform the
production of CSF. Blockage of the communicating passageways causes
enlargement of the ventricles.6

4 "Spina Bifida - Mayo Clinic". Mayoclinic.org. N.p., 2016. Web. 16 Mar. 2016.

5 "Hydrocephalus Fact Sheet". Ninds.nih.gov. N.p., 2016. Web. 1 June 2016.


6 "Hydrocephalus Fact Sheet". Ninds.nih.gov. N.p., 2016. Web. 1 June 2016.
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Fig 3: showing baby with enlarged head due to hydrocephalus

Endocrine System

Congenital Hypothyroidism
Congenital Hypothyroidism is the deficiency of thyroid production in
newborns where thyroid developmental abnormalities occur at any level of
the fetal hypothalamic-pituitary-thyroid axis, thyroid metabolism problems or
iodine deficiency.7
The thyroid gland develops from the buccopharyngeal cavity between 4 and
10 weeks' gestation. During 4 - 10 weeks' of gestation, the thyroid arises
from the 4th branchial pouches and bi-lobed organ are formed in the neck.
Errors in the formation or migration of thyroid tissue can result in thyroid
aplasia, dysplasia, or ectopy. By 10-11 weeks' gestation, the fetal thyroid is

7 "Congenital Hypothyroidism: Practice Essentials, Background, Pathophysiology".


Emedicine.medscape.com. N.p., 2016. Web. 1 June 2016.
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capable of producing thyroid hormone. By 18-20 weeks' gestation, blood


levels of T4 have reached required levels.8

Fig 4: 5 year old infant with congenital Hypothyroidism

Pancreas divisum
Pancreas divisum is a common congenital anomaly in which parts of the
pancreas do not fuse together.
Pancreas divisum is the most common birth defect of the pancreas. During
development, the pancreas that is in two parts, each with its own duct, the
ventral duct and the dorsal duct. The two parts of the pancreas fuse during
development. In more than 90% of the embryos, the dorsal and the ventral
ducts also will fuse to form one main pancreatic duct. The main pancreatic
duct will join the common bile duct to form a common bile and pancreatic
duct that drains into the duodenum through the major papilla.
8 "Congenital Hypothyroidism: Practice Essentials, Background, Pathophysiology".
Emedicine.medscape.com. N.p., 2016. Web. 1 June 2016.
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Fig 5: Showing normal and abnormal formation of the biliary tree.

Congenital Adrenal hyperplasia


Congenital adrenal hyperplasia is a group of diseases whose common
features are defects in the enzymatic production in the steroidogenesis
pathway i.e. mineralocorticoids, glucocorticoids or sex steroids
from cholesterol by the adrenal glands. This is due to adrenal failure or
hypothalamic-pituitary impairment of the corticotrophic axis.9
The adrenal glands have 2 parts: The adrenal medulla originates from neural
crest adjacent sympathetic ganglia. Mesenchyme surrounding these cells
differentiates into a fetal cortex which later is replaced by the adult cortex.
The adrenal cortex forms from mesothelium adjacent to dorsal mesentery;

9 Fujieda, Kenji and Toshihiro Tajima. "Molecular Basis Of Adrenal Insufficiency".


Pediatr Res 57.5 Part 2 (2005): 62R-69R. Web. 1 June 2016.
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and is divided into 3 layers which are the zona reticularis, zona fasiculata,
zona glomerulosa.10
This anomaly can affect normal development and growth of a child.

Fig 6: showing adrenal cortex hyperactivity in males and females external


genitals

10 "Endocrine - Adrenal Development - Embryology". Embryology.med.unsw.edu.au.


N.p., 2016. Web. 1 June 2016.
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References
1. "Congenital Hypothyroidism: Practice Essentials, Background,
Pathophysiology". Emedicine.medscape.com. N.p., 2016. Web. 1 June
2016.
2. "Congenital Hypothyroidism: Practice Essentials, Background,
Pathophysiology". Emedicine.medscape.com. N.p., 2016. Web. 1 June
2016.
3. "Hydrocephalus Fact Sheet". Ninds.nih.gov. N.p., 2016. Web. 1 June
2016.
4. "Hydrocephalus Fact Sheet". Ninds.nih.gov. N.p., 2016. Web. 1 June
2016.
5. "Spina Bifida - Mayo Clinic". Mayoclinic.org. N.p., 2016. Web. 31 May.
2016.
6. "Spina Bifida - Mayo Clinic". Mayoclinic.org. N.p., 2016. Web. 16 Mar.
2016.
7. "Anencephaly". My.clevelandclinic.org. N.p., 2016. Web. 31 May. 2016.
8. "Anencephaly". My.clevelandclinic.org. N.p., 2016. Web. 31 May 2016.