[CYTO] Congenital Metabolic Disorders (Part 1)

• butterfly shaped organ that produces thyroid hormones

  thyroid gland
• makes iodine-containing hormones

  thyroid gland
• hormone that determines if thyroid gland is performing properly

  free-thyroid hormones (FT4)
• seen in 1 out of 2000-4000 newborns

  congenital hypothyroidism (CH)
• TRUE OR FALSE: CH has an autosomal dominant pattern of inheritance

  false
• types of CH

  1. thyroid dysgenesis
  2. thyroid dyshormonogenesis
• type of CH: thyroid gland fails to develop

  thyroid dysgenesis
• genes involved in thyroid dysgenesis

  1. thyroid stimulating hormone receptor (TSHR) in chromosome 14
  2. Paired box gene 8 (PAX8) in chromosome 15
• type of CH: defects involving the synthesis & secretion of thyroid hormone

  thyroid dyshormonogenesis
• genes involved in thyroid dyshormonogenesis

  • thyroid peroxidase (TPO) in chromosome 2
  • thyroglobulin (TG) in chromosome 8
  • dual oxidase 2 (DUOX2) in chromosome 15
  • solute carrier family 5 member (SLC5A5) in chromosome 19
• • prolonged jaundice
  • inactive defecation
  • umbilical hernia
  • hypotonia

  early clinical manifestations of CH
• • mental retardation
  • growth retardation
  • delayed skeletal maturation
  • delayed dental development & tooth eruption
  • delayed puberty

  late clinical manifestations of CH
• which gene “cuts” TPO & TG

  Dual oxidase 2 (DUOX2)
• organ located at the top pf the kidneys

  adrenal glands
• hormones produced in the adrenal gland

  • epinephrine (adrenaline)
  • cortisol
  • aldosterone (salt-retaining hormone)
• hormone for rigorous physical activities


  epinephrine (adrenaline)
• hormone for blood sugar levels, protects body from stress, and supresses inflammation

  cortisol
• hormone that regulates the amount of salt retained by the kidneys

  aldosterone
• it is an autosomal recessive disorder that mutates in the cytochrome P450 family 21 subfamily A member 2 (CYP21A2 gene)


  Congenital Adrenal Hyperplasia (CAH)
• deficiency associated with CAH

  21-hydroxylase deficiency
• this deficiency produces excess androgens (male sex hormones)

  21-hydroxylase deficiency
• mutation associated with CAH

  Cytochrome P450 Family 21 Subfamily A Member 2 (CYP21A2 Gene)
• CPY21A2 Gene is found in chromosome 6 within the human leukocyte antigen compatibility (HLA) complex
• provides instructions for making an enzyme called 21-hydroxylase

  CYP21A2 Gene