NU 230 Endocrine
Phenylalanine hydroxylase deficiency (PAH)
• Metabolic disorder; Formally phenylketonuria (PKU)
• Failure to thrive, Vomiting, irritability, hyperactivity, Erratic behavior
• Diagnostics = Heel stick 24hrs after ingestion of milk
• Treatment
o Lifelong dietary modification: Diet low in phenylalanine
u High protein foods such as Meats, eggs and dairy products are eliminated, Vegetables, fruits, cereals can be
eaten
u Phenylalanine-free formula or breast milk
u NutraSweet contains phenylalanine u
Can have regular after age of 2 u Tyrosine
supplementation
Precocious Puberty
• Sexual development before age 9 in boys and age 6-8 in girls
• Manifestations = Pubic/axillary hair, Voice/behavior changes, Acne, Breast development in females, menarche, Penile
enlargement in males
• Treatment = may not be indicated or hormone injections,
o Family education & support, keep with peers of same chronological age, activities/dress appropriate for
chronological age
o Body image disturbances, conduct issues, substance abuse, depression
Juvenile Hypothyroidism = One of the most common endocrine problems in children
• May be congenital or acquired
• Manifestations = Decelerated growth and intellectual disability
• Treatment = Thyroid hormone replacement o Give on empty stomach,
• Hypothyroidism –
o Enlarged thyroid, less activity, fatigue
Cannot stay awake while eating **
Diabetes Mellitus
• disease characterized by hyperglycemia and insulin resistance
• 40% of children are diagnosed between 10-14 years of age
1. Type 1 (autoimmune)
Phenylalanine hydroxylase deficiency (PAH)
• Metabolic disorder; Formally phenylketonuria (PKU)
• Failure to thrive, Vomiting, irritability, hyperactivity, Erratic behavior
• Diagnostics = Heel stick 24hrs after ingestion of milk
• Treatment
o Lifelong dietary modification: Diet low in phenylalanine
u High protein foods such as Meats, eggs and dairy products are eliminated, Vegetables, fruits, cereals can be
eaten
u Phenylalanine-free formula or breast milk
u NutraSweet contains phenylalanine u
Can have regular after age of 2 u Tyrosine
supplementation
Precocious Puberty
• Sexual development before age 9 in boys and age 6-8 in girls
• Manifestations = Pubic/axillary hair, Voice/behavior changes, Acne, Breast development in females, menarche, Penile
enlargement in males
• Treatment = may not be indicated or hormone injections,
o Family education & support, keep with peers of same chronological age, activities/dress appropriate for
chronological age
o Body image disturbances, conduct issues, substance abuse, depression
Juvenile Hypothyroidism = One of the most common endocrine problems in children
• May be congenital or acquired
• Manifestations = Decelerated growth and intellectual disability
• Treatment = Thyroid hormone replacement o Give on empty stomach,
• Hypothyroidism –
o Enlarged thyroid, less activity, fatigue
Cannot stay awake while eating **
Diabetes Mellitus
• disease characterized by hyperglycemia and insulin resistance
• 40% of children are diagnosed between 10-14 years of age
1. Type 1 (autoimmune)
