Hypopituitarism in Children: Model Clinical Case and Viva Q&A
Clinical Case of Hypopituitarism in Children
Clinical Case: Hypopituitarism in a 7-year-old boy
A 7-year-old boy, James, is brought to the pediatric endocrinology clinic by his parents due to concerns about his short stature and delayed development compared to his peers. His parents report the following:
- James has always been smaller than his classmates
- His growth has slowed significantly over the past two years
- He tires easily and often complains of feeling cold
- He has not shown signs of early puberty unlike some of his friends
Physical examination reveals:
- Height: 110 cm (<3rd percentile for age)
- Weight: 20 kg (<3rd percentile for age)
- Delayed dentition
- Childish facies with apparent central adiposity
- Tanner stage 1 for both genital development and pubic hair
Initial laboratory findings:
- Low IGF-1 levels
- Low free T4 with inappropriately normal TSH
- Low morning cortisol
MRI of the brain reveals a small anterior pituitary gland with an absent pituitary stalk and an ectopic posterior pituitary bright spot.
Based on these findings, James is diagnosed with multiple pituitary hormone deficiencies (MPHD) due to congenital hypopituitarism. He is started on hormone replacement therapy including growth hormone, levothyroxine, and hydrocortisone. His parents are counseled about the long-term management and the need for close monitoring of his growth and development.
Clinical Presentations of Hypopituitarism in Children
Comprehensive Clinical Manifestations of Pediatric Hypopituitarism
-
Growth Failure and Short Stature
- Height velocity below 25th percentile for age
- Height more than 2 SD below mean for age and sex
- Bone age typically delayed by more than 2 years
- Disproportionate weight for height with increased central adiposity
- Immature facial features and high-pitched voice
- Poor muscle development and decreased lean body mass
- Delayed dentition and dental development
- Thin, fine hair and soft, doughy skin
-
Neonatal Manifestations
- Severe hypoglycemia requiring glucose infusion
- Prolonged unconjugated hyperbilirubinemia (>2 weeks)
- Micropenis and/or cryptorchidism in males
- Temperature instability
- Poor feeding and lethargy
- Prolonged physiologic jaundice
- Respiratory distress due to surfactant deficiency
- Electrolyte imbalances (particularly hyponatremia)
- Poor weight gain and failure to thrive
- Hypotension and shock in severe cases
-
Pubertal Disorders
- Delayed puberty (girls >13, boys >14 years)
- Arrested pubertal development
- Primary amenorrhea in females
- Lack of testicular enlargement in males
- Absent pubertal growth spurt
- Delayed skeletal maturation
- Poor development of secondary sexual characteristics
- Persistent high-pitched voice in boys
- Delayed menarche in girls
- Poor muscle mass development during adolescence
-
Central Hypothyroidism Features
- Fatigue and lethargy
- Cold intolerance
- Dry, coarse skin
- Constipation
- Poor concentration and school performance
- Delayed bone age
- Bradycardia
- Hoarse voice
- Periorbital puffiness
- Delayed reflexes
-
Central Adrenal Insufficiency Manifestations
- Poor stress response
- Recurrent hypoglycemia
- Fatigue and weakness
- Postural hypotension
- Salt craving
- Chronic nausea
- Poor recovery from illness
- Unexplained fever
- Decreased appetite
- Risk of adrenal crisis during stress
-
Diabetes Insipidus Symptoms
- Polyuria (excessive urination)
- Polydipsia (excessive thirst)
- Nocturia
- Dehydration risk
- Hypernatremia
- Poor weight gain
- Irritability
- Sleep disturbance due to frequent urination
- Enuresis in older children
- Preference for cold water
-
Associated Midline Defects
- Cleft lip and/or palate
- Single central incisor
- Optic nerve hypoplasia
- Absent septum pellucidum
- Corpus callosum abnormalities
- Holoprosencephaly spectrum
- Facial midline defects
- Choanal atresia
- Pituitary stalk interruption
- Ectopic posterior pituitary
-
Neurocognitive and Behavioral Features
- Learning difficulties
- Poor concentration
- Mood changes
- Decreased energy levels
- Social withdrawal
- Memory problems
- Delayed motor development
- Speech delays
- Behavioral changes
- Poor academic performance
-
Metabolic and Body Composition Changes
- Increased body fat percentage
- Decreased muscle mass
- Poor exercise tolerance
- Altered glucose metabolism
- Abnormal lipid profile
- Reduced bone mineral density
- Impaired thermoregulation
- Decreased sweating
- Poor wound healing
- Reduced energy expenditure
-
Visual and Neurological Signs
- Visual field defects
- Decreased visual acuity
- Nystagmus
- Optic atrophy
- Headaches
- Balance problems
- Coordination difficulties
- Seizures in severe cases
- Cranial nerve palsies
- Papilledema if mass lesion present
Knowledge Check: Question and Answers for Medical Students & Professionals
This interactive quiz component covers essential viva questions and answers. It includes 30 high-yield viva questions with detailed answers.
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