ENDOCRINOLOGY Flashcards
What is the first sign of puberty in a boy?
Testicular enlargement
What is the first sign of puberty in a girl?
Breast budding
The height acceleration peaks in girls is at which
sexual maturation rating (SMR) stage?
Between stage 2 and 3 SMR
The height acceleration peaks in boys is at which SMR stage?
Between stage 4 and 5 SMR
How many years after breast development does
menarche start?
2.5 years (approximately)
A 5-year-old female, pubic hair, adult odor, no
breast development, bone age is equal to
chronological age, slightly increased
dehydroepiandrosterone (DHEA) level, normal
growth pattern for age
Premature adrenarche
A 2-year-old female with bilateral breast buds,
unchanged for 1 year, no growth acceleration
Benign premature thelarche
A 4-year-old female with new-onset bilateral
breast enlargement, advanced bone age, and
elevated luteinizing hormone (LH) and folliclestimulating hormone (FSH)
Central precocious puberty is very likely
A 4-year-old boy presents with an adult-size
phallus, pubic and axillary hair, acne, well-defined muscle tone, prepubertal size testicles
Peripheral precocious puberty
A 4-year-old boy presents with an adult-size
phallus, pubic and axillary hair, acne, well-defined muscle tone, pubertal size testicles, advanced bone age
Central precocious puberty
A 4-year old boy with new-onset adult body odor, recent growth acceleration, pubic and axillary hair, thinning of the scrotum, enlargement of both testicles. Elevated LH and FSH. What is the best study to establish the diagnosis?
Brain MRI
A 5-year-old girl with pubic hair, mild
hyperpigmentation of skin folds, slightly enlarged clitoris
Simple virilizing CAH-21 OH deficiency
Second newborn screen positive for high
17-hydroxyprogesterone. What is the next best
step?
Repeat 17-hydroxyprogesterone test
What is the best treatment of congenital adrenal hyperplasia?
Hydrocortisone and fludrocortisone
Newborn with proximal hypospadias (e.g.,
penoscrotal) and cryptorchidism
Ultrasonography for internal genitalia,
karyotype, and serum electrolytes to screen for
congenital adrenal hyperplasia
What is the treatment for a patient with congenital adrenal hyperplasia who presents with vomiting and low blood pressure?
IV hydrocortisone and IV fluid hydration
A 2-week-old male with failure to thrive, persistent vomiting, dehydration, acidosis
CAH 21-OH deficiency (pyloric stenosis is
associated with metabolic alkalosis)
Ambiguous genitalia, nephropathy, Wilms tumor, renal failure by 3 years of age
Denys–Drash syndrome
Female phenotype at birth with undifferentiated
streak gonads, presence of vagina/fallopian tubes, at puberty no breast development/menstruation, development of gonadoblastoma is the highest risk
Swyer syndrome (XY pure gonadal dysgenesis)
Newborn with a small penis, bifid scrotum,
urogenital sinus, blind vaginal pouch, testes are in the inguinal canal, raised as a female, virilization occurs at the time of puberty, enlargement of penis and scrotum, sperm formation, and normal adult height
5-alpha reductase deficiency (autosomal
recessive)
Infant phenotypically female at birth, raised as
female, vagina ends in a blind pouch, no uterus, no fallopian tubes, intra-abdominal testes, normal breast development, no menses, normal male adult height, testosterone level is normal
Androgen insensitivity syndrome; 46, XY
(X-linked recessive disorder)
XY normal male phenotype, inguinal hernia,
undescended testis, Müllerian structures found
incidentally (uterus and fallopian tubes)
Persistent Müllerian duct syndrome
A slow growth rate in the first 2 years of life
(< third percentile), growth velocity afterward is
5.5 cm/year, delayed bone age, delayed puberty, father was a late bloomer
Constitutional growth delay
A 4-year-old with precocious puberty, large caféau- lait spots, skeletal fibrous dysplasia, and
vaginal bleeding are associated with
McCune–Albright syndrome
Short child, growth velocity is 5 cm/year. Bone age is consistent with chronological age, father and mother are short
Genetic/familial short stature
A 4-year-old, height < 3rd percentile, growth
velocity is less than 5 cm/year, microphallus
Growth hormone deficiency
Common hormone deficiency associated with
single maxillary central incisors, septo-optic
dysplasia, cleft lip, cleft palate, and microphallus
Growth hormone deficiency
Normal length and weight by birth initially that
drops by 1-year, conjugated hyperbilirubinemia,
hypoglycemia, broad facies, and microphallus
Congenital growth hormone deficiency
Decreased levels of IGF-1 and IGF-BP3 are seen
in which hormone deficiency?
Growth hormone deficiency
How do you calculate the mid-parental height for a male?
[Mother height + Father height +13 cm]/2
Normal growth hormone levels, height < 2.25 SD below mean for age, otherwise normal healthy child
Idiopathic short stature
How do you calculate the mid-parental height for a female?
[Mother height + Father height—13 cm]/2
Pseudotumor cerebri, slipped capital femoral
epiphysis, and gynecomastia are the possible side effects of which hormonal therapy
Growth hormone
A 7-year-old boy with a progressive headache,
vomiting without nausea, bitemporal hemianopsia, short stature, weight gain, and fatigue. What is the next best step?
Brain MRI (craniopharyngioma)
A 7-year-old boy, at birth, was large for gestational age, macrocephaly, a rapid growth rate in the first 3 years of life; now presenting with cognitive deficiency, autistic behavior, attention deficit hyperactivity disorder (ADHD), large and protruded head, large hands and feet, hypotonia, clumsiness, advanced bone age
Cerebral gigantism (Soto syndrome)
Boy with hypoplasia of optic nerves, nystagmus,
an absence of septum pellucidum, schizencephaly, seizures, hypopituitarism, presented with hypoglycemia, jaundice, and micropenis at birth
Septo-optic dysplasia (De Morsier syndrome)
A 17-year-old female, amenorrhea, headache,
galactorrhea, visual field defect; the pregnancy test is negative, and serum prolactin is > 200 mg/ dL. MRI showed a pituitary mass of 15 mm with encroachment on the optic chiasm
Prolactinoma (macroadenoma)
A 17-year-old boy, no signs of puberty, penis, and testicles are prepubertal, and anosmia
Kallmann syndrome (hypogonadotropic
hypogonadism)
A 17-year-old male presents for a well visit. He
has academic difficulty, gynecomastia, small firm testicles (< 10 mL). He is tall with
disproportionately long legs and arms
Klinefelter syndrome 47, XXY karyotype
A 16-year-old female, short stature (< third
percentile), no breast development, amenorrhea, low hairline, shield-shaped chest, spooning of her fingernails, cubitus valgus, and sensorineural hearing loss
Turner syndrome; 45, X karyotype
The most common cardiac defect associated with Turner syndrome
Bicuspid aortic valve
Newborn girl had cystic hygroma on fetal
ultrasound, lymphedema of the feet, webbed neck, heart murmur, and horseshoe kidney
Turner syndrome; 45, X karyotype
A 5-year-old male, lymphedema of the feet at
birth, short stature, webbed neck, strabismus,
hearing loss, joint laxity, pulmonary stenosis,
intellectual disability, normal karyotype
Noonan syndrome (mutations in the RASMAPK
pathway)
Newborn screen of a 6-day-old boy showed
abnormal thyroid-stimulating hormone (TSH) level of 230 mIU/L (elevated TSH > 40 mIU/L).
Physical examination is unremarkable. What is the next best step?
Obtain confirmatory TSH and free thyroxine
now but initiate the treatment immediately,
before the results of the confirmatory tests are
available
What is the optimal care of neonates with
congenital hypothyroidism?
Early diagnosis before age 10–13 days and
normalization of thyroid hormone blood levels
by age 3 weeks