Endocrine disorders and Centile charts and assessment of child growth II Flashcards
When should the cranial sutures close? [1]
After 18 months
Name two types of ISS
constitutional growth delay
familial short stature
Describe how the growth of an individual with familiar short stature occurs
How does their height compare to their parents?
- Normal birth weight and length - first two years of life linear growth velocity slows as they near their genetically determined centile (normal in first but will slow towards second)
- Once target centile is reached the child resumes normal linear growth to the growth curve (not going up and down)
- Grows along growth centile: final height is short but appropriate for family
Describe how growth of an individual with constitutional growth delay occurs?[2]
How does their height compare to their parents?
- Delay in bone age
- Similar to familial short stature to start with: below the 5th centile, but have delay in skeletal maturation AND puberty: occurs later
- No necessarily short parents
- Growth continues beyond the time when for an average child stops growing
- Final height is normal
- Often a Fx of late growth spurt
Describe the release pattern of GH [1]
GH is stimulated by the release of ? [1]
Pulsatile
GHRH –> GH –> IGF-1
What stimulates the release of GH? [3]
When is GH released? [3]
Sleep, exercise and hypoglycaemia
Release peaks during deep sleep, 3hrs after a meal and after exercise
Growth hormone deficiency characterised by? [3]
Growth hormone deficiency characterised by:
- decreased growth velocity
- delayed skeletal maturation
- in the absence of other explanations
**Normal birth weight and only slighly reduced length **
Normal growth: but after 7 / 8 years growth plateaus (regains after GH treatment)
What can cause GH deficiency? [7]
What is the most common? [1]
- Isolated
- Coexist with other anterior pituitary deficiencies
- Congenital (septo-optic dysplasia or ectopic posterior pituitary as anterior part may also be missing or underdeveloped)
- Genetic (GH or GHRH gene mutation)
- Acquired (craniopharyngioma, germinoma, histocytosis or cranial irradiation)
- Idiopathic is the most common 1:4000
Why does GH deficiency suggest that GH is only a minor contributor to intrauterine growth? [1]
Children with GHD have normal birth weight and only slightly reduced length
If you have short stature or decreased growth rate - what would screening studies try and rule out / discover? [2]
If no findings were found for ^, what would you diagnose? [1]
Growth Hormone Deficiency
Another underlying disease
No findings of GHD: Idiopathic short stature
What type of drug is oxandrolone and what does it help to treat? [1]
Androgen anoblic steroid: can improve height in Tuner syndrome; but not for ISS
What does giving GH to do people with ISS? (remember they dont have GHD)
Baseline IGF-1 for ISS is low; after treatment increases
GH is useful treatment for ISS
What treatment can you give for ISS? [1]
Growth Hormone
When does puberty begin in boys [1] and girls [1]
Puberty starts in 95%:
Girls between 8 -13 years
Boys between 9-14 years
What is the physiological mechanism behind puberty starting [2]
GnRH produced and stimulates LH and FSH release from AP
What are the 5 stages of James Tanner puberty?
Tanner stage 1 = pre-puberty
Tanner stage 2 = start of puberty
Tanner stage 5 = sexual maturity
What would the precocious puberty be classified as in girls [1] and boys? [1]
What is most common cause? [1]
Reach Tanner stage 2 before age of 8 (female) or 9 (male)
Most common cause is premature production of GnRH (stage 2)
How do you treat precocious puberty? [1]
Give GnRH to overstimulate pituitary and desensitised and stops producing gonadotrophins
At what stage of James Tanner puberty is irreversible to treatment for precocious puberty? [1]
Stage 3
What is unilineal autosomal dominant delayed puberty? [1]
What is bilineal autosomal dominant delayed puberty [1]
If one / both parents are effected from delayed puberty [1]
What is bilineal by extension delayed puberty?
Bilineal tracing descent through both maternal and paternal lines
Probs autosomal recessive
What would an individual with low or normal serum LH and FSH levels but a normal growth rate be likely to suffering from? [1]
GnRH deficiency or Constitutional delay of growth and puberty (CDGP)
What would an individual with low or normal serum LH and FSH levels but a slow growth rate be likely to suffering from? [1]
Functional hypogonadotropic hypogonadism
What would an individual with elevated serum LH and FSH levels after 13 /14 years be suffering from? [1]
Primary hypogonadism
What are the 3 potential causes of functional hypogonadotropic hypogonadism?
If have a low BMI? [1]
If have a normal BMI? [3]
If have a high BMI? [1]
What are the 3 potential causes of functional hypogonadotropic hypogonadism?
If have a low BMI: GI disorder (underfeeding)
If have a normal BMI: hypothyroidsm; hyper-PRL; GHD
If have a high BMI: Iatrogenic (corticoids)
Roughly how long after pubarche begins does axillary hair growth begin in boys?
2 weeks
2 years
5 years
6 months
Roughly how long after pubarche begins does axillary hair growth begin in boys?
2 weeks
2 years
5 years
6 months
Which of these stages occurs last in female puberty?
Pubarche
Thelarche
Menarche
Growth spurt begins
Which of these stages occurs last in female puberty?
Pubarche
Thelarche
Menarche
Growth spurt begins
Which cells does FSH act on in males to stimulate sperm production?
Leydig cells
Spermatozoa
Oocytes
Sertoli cells
Which cells does FSH act on in males to stimulate sperm production?
Leydig cells
Spermatozoa
Oocytes
Sertoli cells
A 17 year old female presents to her GP after a discussion with her friends about periods. While most of her peers had started, she realised she hadn’t ever had a period. After investigation, her levels of DHEA were shown to be raised, and she had no uterus on ultrasound. What genetic profile might be associated with her presentation?
45, XO
Mutation in ANOS1 gene
Mutation in AR gene
Deletion of paternal 15q11.2-q13 region
A 17 year old female presents to her GP after a discussion with her friends about periods. While most of her peers had started, she realised she hadn’t ever had a period. After investigation, her levels of DHEA were shown to be raised, and she had no uterus on ultrasound. What genetic profile might be associated with her presentation?
45, XO
Mutation in ANOS1 gene
Mutation in AR gene
Deletion of paternal 15q11.2-q13 region
This is Androgen Insensitivity – therefore the answer is 3. Androgen insensitivity occurs when a genetic mutation in the AR gene means that genetically male (46, XY) individuals cannot respond to androgens because the receptor proteins are faulty. It can be de novo, or X linked recessive. Presents with externally “female” characteristics, but no secondary sexual characteristics (breasts will be normal as testosterone will be converted to oestradiol), no uterus and no menstruation.
FSH (follicle stimulating hormones) receptors are present on which of the following cells?
Granulosa cells
Theca cells
Leydig cells
Basement membrane of the ovarian follicle
FSH (follicle stimulating hormones) receptors are present on which of the following cells?
Granulosa cells
Theca cells
Leydig cells
Basement membrane of the ovarian follicle
Gonadotropin-releasing hormone(GnRH) is responsible for the release of FSH and LH from the anterior pituitary. GnRH is synthesised and released from GnRH neurons within the hypothalamus which constitutes the initial step in the HPG axis. Before the onset of puberty, the GnRH neurons are under the inhibitory control of?
Gonadal Inhibition
Central Nervous System (CNS) Inhibition
Endocrine Inhibition
Psychological Inhibition
Gonadotropin-releasing hormone(GnRH) is responsible for the release of FSH and LH from the anterior pituitary. GnRH is synthesised and released from GnRH neurons within the hypothalamus which constitutes the initial step in the HPG axis. Before the onset of puberty, the GnRH neurons are under the inhibitory control of?
Gonadal Inhibition
Central Nervous System (CNS) Inhibition
Endocrine Inhibition
Psychological Inhibition
16-year old boy on examination is found to have genital development corresponding to Tanner stage 1 and his height is below the 3rd percentile on growth charting. What is the most common cause for his condition?
Kallman syndrome
Klinefelter syndrome
Constitutional delay
Familial short stature
16-year old boy on examination is found to have genital development corresponding to Tanner stage 1 and his height is below the 3rd percentile on growth charting. What is the most common cause for his condition?
Kallman syndrome
Klinefelter syndrome
Constitutional delay
Familial short stature
You are posted in a Paediatric endocrinology placement where you are seeing multiple cases of girls being diagnosed with precocious puberty by your consultant. Precocious puberty is defined as the onset of secondary sexual characteristics before what age?
5 years
7 years
8 years
9 years
You are posted in a Paediatric endocrinology placement where you are seeing multiple cases of girls being diagnosed with precocious puberty by your consultant. Precocious puberty is defined as the onset of secondary sexual characteristics before what age?
5 years
7 years
8 years
9 years
