Abnormal Growth Flashcards
What is the difference between hypergonadotrophic hypogonadism and hypogonadotrophic hypogonadism?
- hypogonadotrophic hypogonadism: impaired secretion of gonadotropins, including FSH and LH by the pituitary gland in the brain, and in turn decreased gonadotropin levels and a resultant lack of sex steroid production.(Kallman, tumors, head trauma, drugs, malnutrition)
- Hypergonadotrophich hypogonadism: hypogonadism due to an i_mpaired response of the gonads_ to FSH and LH and in turn a lack of sex steroid production and elevated gonadotropin levels (as an attempt of compensation by the body) (e.g., Turner’s, Klinefelter’s, trauma, radiation, STIs, drugs)
Abnormal growth: What questions do you want to ask during the interview to help define the problem?
- Parental heights: so you can plot on growth curve
- Puberty questions: are they on track? Tanner stages? If on track with puberty, less worrisome.
- If no puberty in female - think of Turners. Early puberty not so worrisome.
- Early puberty in males: worry
- Diet and exercise: are they malnourished? Could be tied to puberty delay as well.
- GI complaints: IBD / Celiac - malnourished
- Other sx suggestive of thyroid - e.g., temp intolerance (anorexia too)
- Sense of smell? none = Kallman
Abnormal growth: What do you look for on exam?
- Height and weight
- Arm span and upper-to-lower (U/L) body-segment ratio
- Sexual maturity ratings (SMRs) - orchidometer (blue beads = prepubertal; yellow = puberty)
- A general physical examination, with special attention to the thyroid gland, ophthalmological examination, neurological examination, and stigmata of congenital syndromes (e.g., gynecomastia Klinefelter’s, webbed neck of Turner, etc)
Abnormal growth: What diagnostic studies should be ordered?
- Bone age
- BUN, creat
- CBC, ESR
- Total IgA, tTG IgA (Celiac Dz IGA 30-300)
- Thyroid indices, TSH
- IGF-1, IGFBP-3
- FSH, LH, Testosterone
- Karyotype
- Head MRI
- Midparental height calculation
whether to reassure parents or b/c a possible abnormality. Karyotype specifically in girls, rarely in boys – girls looking for Turner. (more explanations given)
Abnormal growth: When should you evaluate a patient for short stature?
- Linear growth rate is<4 to 5 cm/year during the years prior to the normal age for peak linear growth velocity
- No evidence of a peak linear growth velocity by age 16 years in boys and 14 years in girls.
- Deceleration below an individual’s established growth velocity occurs.
- The adolescent’s height is more than 2 standard deviations (SDs) below the calculated midparental height
- The adolescent’s height is more than 3 SDs below the mean. Consideration should be given to carrying out a full evaluation if an adolescent’s height is between 2 to 3 SDs below the mean; at a minimum, a careful history and physical examination, screening laboratory tests and observation of growth for 6 months is warranted.
When should you evaluate a patient for delayed puberty?
- absence of breast budding by age 13 in girls, PH1 beyond 14yo, no menstruation beyond 16yo OR 5y between initiation of breast growth and menarche
- lack of testicular enlargement by age 14 in boys, PH1 beyond 15yo, phallic enlargement in absence of testicular enlargement, >5y btwn initation to completion of genital growth
How do you calculate estimates of mature height?
Mid-Parental Percentile
M: Fa HT + Mo HT + 5”
2
F: Mo HT + Fa HT – 5”
2
What would the growth curve of a child with familial short stature look like?
Progress “normally” at a lower percentile.
Birth weight and length that are often below the 3rd percentile for gestational age, Growth curve that generally parallels the 3rd percentile
What would the growth curve of a child with growth hormone deficiency look like?
height percentile drops off more precipitously than weight (which also drops)
What would the growth curve of a child with constitutional delay of growth look like?
- often slow growers throughout childhood, may slow even further when they reach age when puberty normally occurs.
- GV increases into normal range when finally enter puberty
- Tend to have a less exuberant growth spurt and thus final height often shorter than predicted
What would bone ages be for familial short stature?
BA=Chronologic Age
What would bone ages be for growth hormone deficiency?
BA<ca>
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What would bone ages be for constitutional delay of growth?
BA < CA
(equal delay of bone and height age)
A patient with primary amenorrhea has serum gonadotropins checked. Her FSH is 102 MIU/ml, and LH is 94.5 MIU/ml. What other labs should be checked?
hypergonadotrophic hypogonadism
17 hydroxyprogesterone, karyotype, head CT/MRI, serum progesterone, serum testosterone
What is BMI and why might it be useful in the evaluation of patients with primary amenorrhea?
Mass (kg)/height (m2)
Very low BMI (due to anorexia or malabsorption like Celiac or IBD) can cause primary amenorrhea
What are some counseling issues and strategies for adolescents who experience delays in physical growth and/or sexual development.
–Juvenilization (Sandberg 1999)
–Teasing, Bullying (Voss and Mulligan 2000)
–Exclusion (Zimet 1997)
–Loss of independence, overprotection (Zimet 1997)
–Physical limitations
- heightism in language, job, marriage/partnership
- discuss w/ado. Find out if they perceive a problem - consider that over focusing on getting them taller may send the opposite message we want
What are the clinical characteristics specific to Turner syndrome?
- 45,X (or mosaic 45,X/46,XX, etc)
- Short stature
- Streak gonads
- Absent pubertal growth spurt
- Poor development of secondary sexual characteristics, with less breast development than pubic hair development
- Lymphedema
- Nail dysplasia
- High arched palate
- Strabismus
- Hearing deficit due to chronic otitis
- Cubitus valgus
- Webbing of the neck
- Low hairline
- Shield-shaped chest
- Coarctation of the aorta
- Horseshoe kidneys
- Short fourth metacarpal
- Multiple pigmented nevi
- Normal vagina, cervix, and uterus
- Poor space-form perception with normal overall intelligence
*
What tests would aid in the diagnosis of Turner syndrome?
Karyotype
FSH and LH levels
What is an appropriate management plan for Turner syndrome?
Refer to Endocrine, consider further tests to investigate complications.
- GH helps - higher dose than GH deficiency
- monitor IGF-1, TSH, bone age during Tx
- baseline renal U/S, periodic ECHO
- Delay estrogen replacement to 12 to 14 to maximize height gain
What are the clinical characteristics specific to Klinefelter syndrome?
- 47, XXY (more Xs = more severe)
- small, firm testes
- tall, slender body habitus w/long legs and shorter torso (growth plates not closing, low testosterone)
- gynecomastia (higher estrogen)
- feminine hips
- high pitched voice
- sparse facial and pubic hair
- infertility
- hypergonadotrophich hypogonadism
- motor delay or dysfunction
- speech and language difficulties
- attention deficits
- learning disabilities
- dyslexia or reading dysfunction
- psychosocial or behavioral problems
What tests would aid in the diagnosis of Klinefelter syndrome?
karyotype
FSH & LH levels
What is an appropriate management plan for Klinefelter syndrome?
Refer to Endocrine
Rx: testosterone, Ca++, Vit D
Manage comorbidities, learning issues, etc
What are the clinical characteristics specific to Androgen Insensitivity?
- 46, XY (genetically male but resistant to androgens)
- previously referred to as “testicular feminization”
- phenotypic female with tall stature, absence of sexual hair, normal breast development and timing of puberty, but absence of menarche.
- Vagina is a short pouch and there is no uterus.
What tests would aid in the diagnosis of androgen insensitivity?
The karyotype is 46,XY, and testosterone levels are elevated.
What is an appropriate management plan for androgen insensitivity?
- Refer to Endocrine
- Gender assignment question - may inform tx plan
- Remove testes d/t risk of cancer
- psychological support
