Peds Endocrine Disorders

Peds Endocrine Disorders

Pituitary Disorder


Prader-Willi Syndrome
  • -Pathway/Axis:
    • growth hormone
  • – Major cause:
    • deletion or inexpression of a large region on parental chromosome 15
  • – Major symptoms:
    • extreme appetite which can lead to obesity, sleep disorders, short stature, delayed or incomplete sexual and physical development, cognitive disabilities, behavior problems, hypogonadism.

Thyroid Disorder

  • – Pathway/Axis:
    • Hypothalamic/ Pituitary/ Thyroid (HPT axis)
  • – Major cause:
    • iodine deficiency causes problems with the production of thyroid hormones, defect in the development of thyroid gland (absent, underdeveloped, or placed in the wrong place)
  • – Major symptoms:
    • stunted growth, puffy or dull face, protruding tongue, and belly button, retarded mental development, jaundice, sleeps a lot, poor feeding, decreased muscle tone, constipation, difficulty breathing, short physique, decreased activity, “floppy” infant

Congenital Hypothyroidism
  • – Pathway/Axis:
    • Hypothalamic-pituitary-thyroid axis (HPT)
  • – Major cause:
    • shortage of thyroid hormone at birth.
    • Due to absent, reduced size, or improperly located thyroid.
    • May also be due to impaired step in thyroid hormone production pathways or improper stimulus at some point in the HPT axis.
  • – Major symptoms:
    • large anterior fontanelle, jaundice, reduced growth and activity, poor feeding, hoarse cry, hypotonia (low muscle tone), constipation, dry skin, umbilical hernia, coarse facial features, pallor, and macroglossia (enlarged tongue).

Adrenal Disorders

Congenital Adrenal Hyperplasia (CAH)
  • – Pathway/Axis:
    • steroidogenesis pathways in the adrenal gland
  • – Major cause:
    • excess production of androgens from the adrenal gland due to deficiency in enzyme 21-hydroxylase, during development.
  • _ Major symptoms:
    • Excess production of androgens after 12th weeks leads to the enlarged clitoris that resembles a penis.
    • Exposure at earlier stages may lead to labia fusing and forming a penile urethra.
    • Studies have also shown that females with CAH tend to behave more masculine.

Gonadal Disorders

Turner Syndrome

Lipid Disorders

Lipoid congenital adrenal hyperplasia (lipoid CAH)
  • – Pathway/Axis:
    • steroid hormone synthesis
  • – Major cause:
    • arises from defects in the earliest stages of steroid hormone synthesis: the transport of cholesterol into the mitochondria and the conversion of cholesterol to pregnenolone- the first step in the synthesis of all steroid hormones.
  • – Major symptoms:
    • mineralocorticoid deficiency in affected infants and children. male infants are severely undervirilized causing their external genitalia to look feminine.
    • The adrenals are large and filled with lipid globules derived from cholesterol.

Pediatric dyslipidemia

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