Endocrine Flashcards
What is the definition for precocious puberty in males and females?
Males: testicular enlargement before age 9
Females: thelarche before age 8
What is considered delayed puberty in females and males?
Females: >14 for secondary signs, >16 for amenorrhea (Nelson’s: >13 years)
Males: >15 years (Nelson’s: >14 years)
What is the treatment for hypocalcemia in the context of hypoparathyroidism? What genetic syndrome is associated with this?
Calcitriol
DiGeorge
What growth velocity in a child should make you suspicious for an endocrinopathy?
Suspect endocrinopathy if >3 years old with low isolated height velocity (ie. <4-5cm/year)
What is the progression of puberty for girls?
Boobs, pubes, growth, flow
- Thelarche (breast bud), adrenarche (pubic hair) are earliest signs (SMR2)
- Peak growth spurt 1 year after thelarche (SMR3-5) and before the onset of menarche
- Menarche usually 2-3 years after thelarche (SMR4)
What is the progression of puberty for boys?
Sac, hair, shout, shoot and shoot up
- First sign is scrotal thinning and increased testicular size (>4mL)
- Pubic and axillary hair (adrenarche)
- Deepening voice, facial hair, acne
- Sperm development at SMR3 with ejaculation and nocturnal emissions
- Growth spurt late in puberty
What health issues do you need to be aware of for patients with achondroplasia?
- Craniocervical junction compression w/ sm. foramen magnum; hydrocephalus, upper airway obstruction or thoracolumbar kyphosis (uncommon)
- Delayed motor milestones
- Central and OSA
- FTT
- Hypotonia
- Obesity
- Frequent AOMs which can lead to hearing loss
How is achondroplasia diagnosed?
- Clinical characteristics (short stature, macrocephaly, trident configuration of hands, long, near N trunk length) and x-rays with spec. findings: square shape of pelvis w/ small sacrosciatic notch, short pedicles of vertebrae w/ lumbar/thoracic interpedicular narrowing, shortening of long bones, proximal femoral radiolucency chevron shape of distal femoral epiphyses
- Genetic testing is not required in all children with clinical diagnosis, FGFR3 testing should be done when atypical presentation
How is achondroplasia inherited?
- Autosomal dominant meaning 50% chance of passing onto children
- FGFR3 gene
What is the most common complication of achondroplasia in adulthood?
-Compression of spinal cord or nerve roots due to lumbosacral spinal stenosis
What are the main 3 features of McCune-Albright Syndrome?
Precocious puberty, cafe-au-lait spots, fibrous dysplasia
What is the target HbA1C for children and adolescents with T1DM?
=7.5
- 2 hour post prandial is 5-10mmol/L
- Fasting preprandial 4-9mmol?L
Name 4 indications for Growth Hormone therapy.
Currently approved pediatric indications in Canada are:
- Growth hormone deficiency (approved in 1987)
- Turner syndrome (1997)
- Small for gestational age (2006)
- Idiopathic short stature (2006)
- SHOX deficiency (2008)
- Chronic renal insufficiency is an approved indication for some growth hormone formulations (1996)
- Prader-Willi syndrome
Describe SMR1 for females.
Pubic hair and breasts are preadolescent.
Describe SMR2 for females.
Pubic hair: Sparse, lightly pigmented, straight, medial border of labia.
Breasts: Breast and pailla elevated as small mount; diameter of areola increased.
Describe SMR3 for females.
Pubic hair: Darker, beginning to curl, increased amount.
Breasts: Breast and areola enlarged, no contour separation.
Describe SMR4 for females.
Pubic hair: Coarse, curly, abundant, but less than in adult.
Breasts: Areola and papilla form secondary mound,
Describe SMR5 for females.
Pubic hair: Adult feminine triangle, spread to medial surface of thighs.
Breasts: Mature, nipple projects, areola part of general breast contour.
Describe SMR1 for males.
Pubic hair: None.
Penis: Preadolescent.
Testes: Preadolescent.
Describe SMR2 for males.
Pubic hair: scant, long, slightly pigmented.
Penis: minimal change/enlargement.
Testes: Enlarged scrotum, pink, texture altered.
Describe SMR3 for males.
Pubic hair: Darker, starting to curl, small amount.
Penis: Lengthens
Testes: larger
Describe SMR4 for males.
Resembles adult type, but less quantity; coarse, curly.
Penis: Large, glans and breadth increase in size.
Testes: Larger, scrotum dark
Describe SMR5 for males.
Pubic hair: adult distribution, spread to medial surface of things
Penis: adult size
Testes: adult size
What is Kallman Syndrome?
Combination of impaired/absent sense of smell, gonadotropin deficiency and is also associated with ASD, unilateral renal agenesis, and colour blindness.
What is Klinefelter?
Klinefelter (47 XXY) occurs in 1:500 males; common features include reduced intelligence, adolescent gynecomastia, and small firm testes (rarely >5ml in volume, ~25% adult volume); often have tall and thin habitus and may have delayed puberty; phallus is often smaller than average and infertility is near 100%
What is the most common central lesion implicated in central precocious puberty?
Hypothalamic hamartoma
