Endocrinology Flashcards
Regarding normal pubertal development, which of the following are true (there may be more than 1 correct answer):
A) The onset of puberty in females is defined as Tanner Stage 1 breast development
B) The onset of puberty in males is defined as the appearance of pubic hair
C) Females enter puberty earlier than males
D) Peak height velocity occurs at Tanner Stage 4 breast development in girls
The answer is C)
Onset of puberty in girls 10-11 years (range 8-13.5 years)
Onset of puberty in boys 11-12 years (range 9-14 years)
A) and B) are incorrect because the onset of puberty in both females is defined as thelarche (Tanner stage 2+ breast development) in girls, and increase to 4 mL+ testicular volume in boys.
D) is incorrect because peak height velocity in girls occurs in early puberty, prior to when you would expect Tanner Stage 4 breast development.
Regarding abnormal puberty, which of the following are true (there may be more than 1 correct answer):
A) Medical treatment is often required for premature thelarche
B) Congenital adrenal hyperplasia is often detected on routine investigations for premature adrenarche
C) Gynaecomastia is always pathological and requires investigation
D) None of the above
The correct answer is D)
A) is incorrect because premature thelarche is more often benign, and if occuring without other signs of puberty can be monitored clinically.
B) is incorrect because -
C) is incorrect because gynaecomastia is common (50% of pubertal boys), often benign, regresses, and does not require investigation unless atypical features (exaggerated, persistent, abnormal pubertal progression, associated signs/features e.g. Klinefelter’s hypogonadism, systemic illness, liver dysfunction, concern for sex-steroid secreting tumour).
Regarding precocity, which of the following are true (there may be more than 1 correct answer):
A) Central precocious puberty is rarely pathological in males
B) Low or undetectable gonadotropes in the presence of pubertal signs suggests pseudo-precocious puberty
C) CNS tumours can cause precocious puberty
D) The definition of central precocious puberty in females is Tanner stage 2 breast development prior to the 9th birthday
There are 2 correct answers: B) and C).
B) is correct because pre-pubertal levels of FSH/LH but increased sex steroids for age is typical of pseudo-precocious puberty (aka peripheral precocity), and suggests a pathology further down the HPA/HPG axes (e.g. CAH, adrenal/gonadal tumours, gonadotropin-independent pathologies such as McCune Allbright syndrome).
C) is correct because neurogenic causes including tumours are common.
A) is incorrect because central precious puberty is pathological in ~75% cases in boys (compared to ~90% cases idiopathic in girls with no CNS lesion identified).
D) is incorrect because you would expect other signs associated with premature gonadarche secondary to FSH/LH/increased sex steroids in central precocity, and true premature thelarche is breast development in girls <8 years.
CASE The characteristics outlined by this case description (see pictured) is most consistent with: A) Normal variant B) Premature adrenarche C) Premature thelarche D) Central precocious puberty E) Pseudo-precocious puberty
The correct answer is B)
A) is incorrect because onset of pubic hair <8 years is not normal.
C) is incorrect because there is no breast development
D) is incorrect because you would expect pubertal FSH/LH as well as sex steroid levels; FSH/LH/oestradiaol are normal in this case.
D) is incorrect, because - ***
(although FSH/LH are normal with slight elevation in DHEAS/androstenedione, you would expect elevated oestradiaol. In CAH in a female, you would expect elevated 17OHP.)
CASE The characteristics outlined by this case description (see pictured) is most consistent with: A) Normal variant B) Premature adrenarche C) Premature thelarche D) Central precocious puberty E) Pseudo-precocious puberty
The answer is C).
This girl has isolated Tanner Stage 2 breast development, with no pubic/axillary hair (Tanner Stage 1). She has pre-pubertal LH/FSH and oestradiol levels, with a normal bone age and a normal pelvic USS excluding a cyst/tumour.
A) is incorrect because breast development is abnormal <8 years
B) is incorrect because there are no symptoms or biochemical findings to support this (would expect pubic/axillary hair, oily skin/acne, body odour, elevated oestradiol).
D) is incorrect because LH/FSH/oestradiol are normal.
E) is incorrect because whilst LH/FSH can be low-normal, you would expect elevated oestradiol and normal/minimally elevated 17OHP (not mentioned). Bone age can be normal-mildly advanced. **
CASE The characteristics outlined by this case description (see pictured) is most consistent with: A) Normal variant B) Premature adrenarche C) Central precocious puberty D) Pseudo-precocious puberty
The answer is C)
Although he is 9 yo, he has a 6 month history (placing him <9 yo for precocious puberty). This boy has pubertal LH/FSH/sex steroids, advanced bone age and a history of headaches (suggestive of a SOL). CNS tumours account for ~75% cases of central precocity in boys.
A) is incorrect, this boy’s pubertal development is clearly not normal.
B) is incorrect as eventhough he clearly has signs of adrenarche, he has elevated pubertal levels of LH/FSH/testosterone (far higher than expected for a 9 yo who would usually be pre-pubertal) with a markedly advanced bone age. Something else is going on higher up the HPA/HPG axes.
D) is incorrect, as he has elevated pubertal LH/FSH levels; this is normal in peripheral precocity.
Regarding delayed puberty, which of the following are true (there may be more than 1 correct answer):
A) Pubertal delay may be associated with poor sense of smell
B) High gonadotropins are suggestive of a primary hypogonadism
C) Constitutional delay of growth usually requires medical treatment
D) Patients with secondary or tertiary hypogonadism have poorer fertility prospects than those with primary hypogonadism
The correct answers are A) and B).
A) is hinting at Kallman syndrome, a genetic cause of tertiary pubertal delay (KAL gene, Xp22.3) which is associated with anosmia.
B) is correct because you would expect the H-P part of the axis to be working but with unresponsive gonads in primary hypogonadism, resulting in high LH, FSH but low oestradiol/testosterone.
C) is incorrect; a watch and wait approach is appropriate for most cases.
D) is incorrect; patients with primary hypogonadism (issue within ovary/testis) have poorer fertility prospects, whereas those with secondary (pituitary) or tertiary (hypothalamus) hypogonadism may concieve with Gn fertility therapy.
CASE The characteristics outlined by this case description (see pictured) is most consistent with: A) Normal pubertal development B) Constitutional delay C) Primary hypogonadism D) Secondary hypogonadism E) Tertiary hypogonadism
The answer is B).
- Associated short stature/poor growth
- Delayed bone age
- Positive FHx of delayed puberty in father
A) is incorrect because this boy has a testicular volume of 4-5 mL and no pubic hair or genital changes at the age of 15.
C) is incorrect because you would expect testosterone to be lower.
D) and E) are incorrect because you would expect LH/FSH to be low (this boy has pubertal levels).
CASE The characteristics outlined by this case description (see pictured) is most consistent with: A) Normal pubertal development B) Constitutional delay C) Primary hypogonadism D) Secondary hypogonadism E) Tertiary hypogonadism
The answer is C)
- Consistent with mosaic Turner syndrome, associated ovarian failure
A) is incorrect, because although thelarche can occur 8-13.5 years of age, elevated LH/FSH with pre-pubertal oestradiol at this age and no ovarian tissue on USS is clearly abnormal.
B) is incorrect, as there is a clear genetic/pathological cause for her short stature, dysmorphism and pubertal delay.
D) and E) are incorrect because LH/FSH are elevated (her H-P parts of the HPG axis are working).
