NU665 growth questions and answers 2023/2024
Predicting height for male and female - Answers -Deviation can be the first sign of an endocrine disorder
-Need to assess pattern of growth and current growth velocity
-Growth potential is based in large part on genetic potential and may change with a...
CGD vs. GHD - Answers 1. Growth hormone deficiency (failure of the hypothalamic-pituitary-gonadal
axis)
-Congenital or acquired
-Cause - idiopathic (most common); pituitary or hypothalamic disease, trauma, minor organic
hypothalamic lesion, infection, radiation
-Presents with - slow growth rate with normal birth weight, signs and symptoms of increased ICP,
microphallus, proportional short stature, delayed bone age
-Diagnosis - get a glucose, CBC, ESR, urinalysis, chemistries, screen for GI illness, thyroid studies, growth
factors, bone age of x-ray of left wrist and hand, rule out turner syndrome in girls, measurement of GH
production using stimulation agents (levodopa, clonidine)
-Management - pediatric endocrinologist if hypothyroidism, IGF-3 or other hormone deficiency is
confirmed or for unexplained slow growth; Genotropine based on weight - 0.16-0.24 mg/kg/week
2. Constitutional growth delay (endocrine diseases associated with delayed bone age; hypothyroidism
-Onset - first years of life with impaired growth; normal length and weight at birth
-Cause - variation of normal growth; normal height velocity; not a disease
-Presents with - growth velocity is normal after 3 years of age, slowed linear growth between 1-3 years
of age; delayed puberty with pubertal growth spurt, delayed bone age, positive family history
-No endocrine or metabolic disturbance - final height is appropriate for parent's height
-Delayed bone age with growth velocity normal for bone age
-Diagnosis - Same screening for GHD, bone x-ray; this child will have a bone age consistent with his or her
height; the child with short stature will have a bone age consistent with the chronological age
,-Management - reassurance, support; endocrine to differentiate between GHD vs. CGD; boys older than
11 and girls older than 10 - prime with sex steroids prior to GH testing to
Intrauterine growth retardation - Answers -Resolved - 2 years
Turner syndrome - Answers -Chromosomal anomaly resulting from multiple karyotypes and a structurally
abnormal X, leading to developmental, cardiac, reproductive, genetic, and psychosocial issues
-The female must have features of TS with the complete or partial absence of the second X sex
chromosome with or without mosaicism of the cell line
-Growth concerns - short stature, short neck with webbing and low posterior hair line, short legs,
delayed puberty and infertility; female with unexplained growth failure or pubertal delay
-Monitor growth using syndrome specific growth chart
-Present in 1/2500 live born females; many affected embryos do not survive to term
-Short stature
Growth excess - Answers -Marfan - autosomal recessive inherited disorder of connective tissue; affects
the skeletal, CV, and ocular system; neurodevelopmental cues WNL
-Tall for age, eye issues, long, narrow, face, slim; elongated limbs, fingers and toes, loose flexible joints;
pectus excavatum or pectus carinatum
-Klinefelter - most common sex chromosome disorder in males; the extra X can come from either parent;
linked to AMA, men with mosaicism are less affected and tend to go undiagnosed; delayed expressive
language, shy, withdrawn, immature for age, ADHD
-Tall with long arm span, dental decay, delayed puberty, small penis, gynecomastia, autoimmune
disorders, skin striae, scoliosis, increased risk of malignancies
-Check arm span
Early puberty - Answers 1. Males
-Premature adrenarche - hair before 10 years old - increased risk for PCOS
2. Females
,-Premature thelarche - isolated breast development without any other features of puberty, occurs in
infant and toddler girls, sometimes at birth; *resolves and rarely progresses; it is important to make sure
growth acceleration is not present, bone age is consistent with chronologic age, and there are no other
signs of puberty
-Premature adrenarche - pubic hair or axillary hair in females prior to 8 years old
-More at risk for PCOS and metabolic syndrome*
-May be caused by an adrenal tumor, CAH, topical testosterone
-Normal variants of puberty
Precocious puberty - Answers -The onset of multiple features of puberty earlier than the normal range
-Defined as thelarche or pubarche before 8 years old in girls and before 9 years old in boys, except for
Hispanic AA and Mexican American girls
-Features - accelerated linear growth, breast development, testicular or penile enlargement, pubic hair
development; bone age may be advanced
-Diagnosis for premature thelarche - nothing unless continued increase in breast or other pubertal
symptoms
-Diagnosis for premature adrenarche - serum 17-OHP to exclude CAH; 24 hour urine or adrenal imaging
to exclude an adrenal tumor
-Isolated menarche - thyroid tests and pelvic ultrasound
-Diagnostic tests for true precocious puberty - bone age x-ray of left wrist or hand, LH, FSH, estradiol or
testosterone; if FSH and LH are high - MRI to exclude CNS tumor; if low - GnRH stimulation test to
distinguish central from peripheral puberty; if peripheral - pelvic U/S for girls, testicular U/S for boys, 17
OHP to rule out CAH
-Management - depends on cause; guide of a pediatric endocrinologist; CNS tumors - radiation, surgery,
or chemo; GnRH agonist to bring serum sex steroids to prepubertal levels
-Treat to get to final adult height
-Central - gonadotropin dependent - idiopathic; CNS tumors, post CNS radiation, CNS infection or
trauma, congenital adrenal hyperplasia
-Peripheral - gonadotropin independent - girls (ovarian cyst or tumor, estrogen secreting tumor, Mccune-
albright syndrome); boys (testicular tumor, testotoxicosis); both (HCG secreting tumor, hypothyroidism)
, Delayed puberty - Answers -When a boy 14 years old or older or a girl 13 years old or older has no
clinical features of puberty on physical examination or if puberty has not progressed within a timely
basis; normal is 11.5 years old in males and 10.5 years old in females
-Girls should progress to menarche within 5 years of breast budding; boys should attain sexual maturity
rating stage 5 pubertal development within 4.5 years of initiation of puberty
-The child should be referred to an endocrinologist for evaluation of hypogonadism; treat with growth
hormone if they have hypogonadism
-Most common cause is CGD
-Youth with CGD require reassurance that puberty will occur spontaneously later compared to some
peers
-Children with delayed puberty and elevated FSH and/or LH levels should be worked up for Turner
syndrome in girls and Klinefelter syndrome in boys
PCOS - Answers -Presentation - hyperandrogenism, anovulation, and polycystic ovaries greater than 10
cm on sonogram
-Insulin resistance is thought to be the major factor that is linked to this syndrome
-Irregular menstrual period (missed or fewer), hirsutism, acne, thinning hair or hair loss on scalp, male
pattern baldness, obesity or unexpected weight gain or difficulty losing weight, darkening of skin, skin
tags
-Diagnostic testing - pelvic exam; cholesterol and glucose testing; androgen and testosterone testing;
ultrasound of ovaries is not necessary; provider discretion is appropriate
-Management - referral to an endocrinologist; if overweight - lifestyle changes of diet and/or exercise;
med treatments include metformin (helps with fat distribution, BMI, and fasting blood sugar while
increasin insulin sensivity and reduces risk of type 1 DM), the thiazolidinediones, combined oral
contraceptives, and orlistat; refer to dermatology for hair removal products (antiandrogen agents) and
procedures; antidepressants may be needed for depression and anxiety
-Red flags - ambiguous genitalia, virilization of female genitalia presenting with enlarged clitoris and
labial fusion in girls, males may have normal external genitalia
-Adrenal crisis - hypoglycemia, change in energy level, severe hypotension - IV dextrose, NS,
hydrocortisone
-Management - endocrinologist for suspected or confirmed adrenal insufficiency; all newborns with
ambiguous genitalia in the newborn must be evaluated for CAH
-Long-term therapy - hydrocortisone
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