Paeds Endocrine Flashcards Preview

Paediatrics > Paeds Endocrine > Flashcards

Flashcards in Paeds Endocrine Deck (26)
Loading flashcards...
1
Q

What level HbA1c are you aiming for in good control of diabetes in children?

A

<7.5%

2
Q

What can cause disorders of the hypothalamic pituitary axis?

A

Congenital - gene mutations e.g. Pou1f1, pitx1.

Central nervous system disorders -

  • tumours e.g. Craniopharyngioma, germ cell tumours,
  • langerhans cell histiocytes
  • post infection e.g. Meningitis
  • head trauma
  • irradiation
3
Q

What are the signs of GH defieciency?

A

Short stature , reduced height velocity, increased adiposity, mid facial hypoplasia, frontal bossing.

4
Q

What are the signs of TSH defieciency?

A

Short and fat, dry skin, Bradycardia, oedema, hypothermia, increased reflex relaxation time.

Can lead to severe learning difficulties

5
Q

What are the signs of LH and FSH deficiency?

A

Neonatal- micro penis, undescended testis, underdeveloped scrotum.

Child- Failure to progress into puberty.

6
Q

What are the signs of vasopressin deficiency?

A

Dehydration, polyuria, polydipsia

7
Q

What is the endocrine physiology for growth?

A

Hypothalamus -> GHRH and somatostatin -> pulsatilla release of GH from pit (GH binding protein complex) -> liver and other organs -> igf1 production -> GH and igf1 act on the epiphyseal growth plate -> stimulates proliferation of chondrocytes -> bone

8
Q

Which gene causes short stature and is associated with turners syndrome?

A

SHOX gene

9
Q

What is silver-Russell syndrome?

A

Type of primordial dwarfism. Thought to be caused by hypomethylation of h19-igf2 region on chrom 11p.15

10
Q

What disease may be suspected by looking at a growth chart before and after weaning?

A

Coeliac disease- FTT during/after weaning

11
Q

What mutation leads to Marfans syndrome?

A

Fbn1 on chromosome 15. Fibrillin-1 used in biogenesis and elastic fibres.

12
Q

What is beckwith- wiedemann syndrome?

A

Overgrowth disorder

Chromosome 11, 11p15. Overactivity of IGF-2 gene (growth factor) and no activity if cdkn1c (inhibits cell proliferation)

13
Q

What are the first signs of puberty in boys and girls?

A

Boys- increase testical volume

Girl - breast development

14
Q

What age in boys and girls defines precocious puberty?

A

Girls <8, menarche <10
Boys <9

Treatment GnRH analogues (stops pulsatile signalling)

15
Q

In males, what hormone is responsible to stop the growth of a uterus?

A

Sertoli cells-> anti-mullerian hormone (AMH) which suppresses female structures

16
Q

What is the most common cause of disorders of sexual development?

A

Congenital andrenal hyperplasia

Ambiguous genitalia

17
Q

When does TSH, FT4 and FT3 enter the normal range in neonatal life?

A

TSH - by day 5

FT3 and ft4 - by day 14

18
Q

What is Pendred syndrome?

A

Congenital deafness and goitre/hypothyroidism

AR- PDS gene which codes for pendrin (SLC26A4)

19
Q

What are the signs of neonatal thyroxicosis?

A

Growth retardation, goitre (may compress trachea), jittery, tachycardia, hypertension, hypermetabolic (Hungry, wt loss, sweating, diarrhoea)

20
Q

Which is the most common enzyme affected in CAH (congenital adrenal hyperplasia)?

A

21- hydroxylase deficiency (cyp21a2)

Leading to high amounts of 17a-hydroxyprogesterone (this is what causes salt-wasting)

21
Q

What are the signs of CAH? In males/ females

A

Females - ambiguous genitalia, growth acceleration

Males- salt wasting -> hyponatimia/ hypovolemia. Later: virillization

22
Q

How do you investigate CAH?

A
Synachten test with 17OHP, 
USP
Electrolytes 
Bone age 
Genetics
23
Q

What is the treatment for CAH (21OH def)?

A
  • Hydrocortisone (reduces hyperplasia and overproduction of androgens and mineralocorticiods)
  • Fludrocortisone and initially NaCl supplementation
24
Q

How does acute adrenal insufficiency present?

A

Shock, apathy, nausea, vomiting, abdominal pain, hypoglycaemia.

Rx - hydrocortisone

25
Q

What are the main causes of cushings in children?

A

Steroid treatment
Pituitary (cushings - older children) e.g. ACTH producing microadenoma
Adrenal (younger children) e.g. Adrenal tumour, Mc Albright syndrome, PPNAD
Ectopic ACTH syndrome (rare)

26
Q

How does phenylketonuria present if missed in the heel prick?

A

High phenylalanine leads to learning difficulties/ development delay and seizures
Often blonde hair and blue eyes
Eczema
Musty odour to urine and sweat