Endocrine 2

Question 1

What are the causes of short stature?

Answer 1

o	Familial
o	IUGR or prematurity
o	Constitutional delay of growth & puberty
o	Endocrine
	Hypothyroidism
	Growth hormone deficiency
	Cushing syndrome
o	Nutrition or chronic illness
o	Psychosocial deprivation
o	Chromosomal disorder/syndrome

Question 2

What is short stature?

Answer 2

a height below the 2nd or 0.4th centile
• Measuring height velocity is a sensitive indicator of growth failure- a height velocity persistently below the 25th centile is abnormal and children will eventually become short

Question 3

What are the causes of GH deficiency?

Answer 3

isolated defect or secondary to panhypopituitarism
pituitary function may be abnormal in congenital mid-facial defects or as a result of Craniopharyngioma, a hypothalamic tumour or trauma (head injury/meningitis)- in GH deficiency the bone age is markedly delayed

Question 4

What is disproportionate short stature?

Answer 4

confirmed by measuring sitting height, sub-ischial leg length (sitting height
– standing height) and limited radiographic skeletal survey
conditions with abnormal body proportions are rare and may be caused by disorders of the formation of bone (eg. skeletal dysplasia)
including Achondroplasia and other short-limbed dysplasia

Question 5

What is Russell-silver syndrome?

Answer 5

a disorder present from birth that involves poor growth, low birth weight, short height and differenes in the size of the two sides of the body

Question 6

What are the symptoms of Russell-silver syndrome?

Answer 6

o	Arm & leg lengths differ
o	Café-au-lait spots
o	Failure to thrive
o	Delayed bone age
o	Short height
o	Swelling of the fingers/toes
o	GI reflux
o	Kidney problems

Question 7

How is height predicted based on parental measures?

Answer 7

the mean of the father’s and mother’s height with 7cm added for the mid-parental target height for a boy and 7cm subtracted for a girl
• The 9th-91st centile range of this estimate is given by ±10cm in a boy & ±8.5cm in a girl

Question 8

What are the features of puberty in females?

Answer 8

• Breast development- first signs at 8½-12½yrs
• Pubic hair growth and rapid height spurt, almost immediately after breast development
• Menarche- occurs on average 2½yrs after the start of puberty and signs that growth is coming to an end, with only 5cm of height gain remaining
• In both genders, there is acne development, axillary hair, body odour and mood changes

Question 9

What are the features of puberty in males?

Answer 9

• Testicular enlargement- occurs to >4ml volume and is the 1st sign of puberty
• Pubic hair growth- follows testicular enlargement, usually between 10-14yrs
• A height spurt occurs when the testicular volume is 12-15ml, after a delay of around 18months
• In both genders- there is acne development, axillary hair, body odour and mood changes

Question 10

What are the causes of delayed puberty?

Answer 10

14 in females and 15 in males
o Constitutional delay of growth & puberty
o Low gonadotrophin secretion- systemic disease (eg. CF, asthma, Crohns, anorexia), acquired hypothyroidism or hypothalamo-pituitary disroders (eg. intracranial tumours or GH insufficiency)
o High gonadotrophin secretion- chromosomal abnormalities, steroid hormone enzyme deficiencies and acquired gonadal damage

Question 11

What are the investigations for delayed puberty?

Answer 11

o Pubertal staging- especially testicular volume
o Identification of chronic systemic disorders
Karyotype- Turners and thyroid and sex levels should be measured
Bone age measurement- X-ray of the hand and wrist
• Pelvic US may be used in females to assess uterine size and endometrial thickness

Question 12

What is precocious puberty?

Answer 12

Before 8 in females and 9 in males
o Precocious puberty when it is accompanies by a growth spurt
o Premature breast development, thelarche
o Premature pubic hair development, (pubarche)
o Gonadotrophin-dependent from premature activation of the HPG axis
o Gonadotrophin-independent from excess sex steroids

Question 13

What are the causes of precocious puberty in females?

Answer 13

usually idiopathic or familial and follows the normal sequence of puberty
o Dissonance- when the sequence of pubertal changes is abnormal eg. isolated pubic hair with virilisation of the genitalia – suggesting excess androgen from congenital adrenal hyperplasia or an androgen-secreting tumour
o Rapid onset
o Neurological symptoms

Question 14

What are the investigations for precocious puberty in females?

Answer 14

• Ultrasound examination of the ovaries and uterus is helpful in establishing the cause of precocious puberty
• In the premature onset of normal puberty- multicystic ovaries and an enlarging uterus will be identified

Question 15

What are the investigations for precocious puberty in males?

Answer 15

o Bilateral enlargement- suggests gonadotrophin release, usually from an intracranial lesion
o Small testes- suggest an adrenal cause eg. a tumour or adrenal hyperplasia
o A unilateral enlarged testes- suggests a gonadal tumour
• Tumours in the hypothalamic region are best investigated by cranial MRI scan

Question 16

What is thelarche?

Answer 16

affects females between 6 months and 2 years of age
breast enlargement may be asymmetrical and rarely progresses beyond stage 3
it is differentiated from precocious puberty by the absence of axillary/pubic hair and of a growth spurt

Question 17

What is pubarche?

Answer 17

occurs when pubic hair develops before 8y/o in females and 9y/o in males, but with no other signs of sexual development
it is most commonly caused by an accentuation of the normal maturation of androgen production by the adrenal gland (adrenarche)
more common in Asian & Afro-Caribbean

Question 18

What does a urinary steroid profile show?

Answer 18

differentiate premature pubarche from late onset CAH or an adrenal tumour- at a higher risk of developing PCOS later in life