Paeds Endocrine

Question 1

Obesity in Children

NICE recommend
consider tailored clinical intervention if BMI at 91st centile or above.
consider assessing for comorbidities if BMI at 98th centile or above

Answer 1

• Asian children: four times more likely to be obese than white children
• female children
• taller children: children with obesity are often above the 50th percentile in height

Cause of obesity in children
* growth hormone deficiency
* hypothyroidism
* Down’s syndrome
* Cushing’s syndrome
* Prader-Willi syndrome

Consequences of obesity in children
* orthopaedic problems: slipped upper femoral epiphyses, Blount’s disease (a development abnormality of the tibia resulting in bowing of the legs), musculoskeletal pains
* psychological consequences: poor self-esteem, bullying
* sleep apnoea
* benign intracranial hypertension
* long-term consequences: increased incidence of type 2 diabetes mellitus, hypertension and ischaemic heart disease

Question 2

Congenital Adrenal Hyperplasia

Autosomal Recessive

Affects adrenal steroid synthesis - higher levels of ACTH

Answer 2

• 21-hydroxylase deficiency (90%) Majority of children to produce aldosterone, leading to salt loss (low sodium and high potassium). In the fetus, the resulting cortisol deficiency stimulates the pituitary to produce ACTH, which drives overproduction of adrenal androgens. As progesterone not converted them.
• Symptoms: present shortly after birth with hyponatraemia, hyperkalaemia and hypoglycaemia – can lead to poor feeding, vomiting, dehydration and arrhythmias. Ambigious Genitalia
• Lifelong glucocorticoids to suppress ACTH levels
• Mineralocorticoid replacement if there is salt loss
• ## Monitoring of growth, skeletal maturity, plasma androgens

Blood tests first line – may show a high level of hormone 17-hydroxyprogesterone;
- Unborn baby may be suspected of having CAH if parents have been carriers. Can use amniocentesis or villous sampling

Question 3

common in pre-terms

Undescended Testis - cryptorchidism

25% cases bilateral

Complications:
* infertility
* torsion
* testicular cancer
* psychological

Answer 3

• Undescended testis may be palpable or impalpable.
• Palpable are usually felt in the groin but cannot be manipulated into the scrotum.
• Reffer to urological surgeon from 3m to 6m
• Orchidopexy done at 1Y

maternal smoking is RF

Bilateral undescended testes
Should be reviewed by a senior paediatrician within 24hours as the child may need urgent endocrine or genetic investigation

Question 4

commonly due to trauma

Testicular Torsion

Twisting of spermatic code->Ischaemia + necrosis

common b/ween 10+30Y

Answer 4

• Sudden onset pain (SEVERE)
• Referred pain in lower abdo with nausea and vomitting

Examination: tender testis retracted, with loss of cremasteric reflex.

Elevation of testis doesn’t help (prehn’s sign)

Urgent surgical exploration

Ultrasound may show **whirlpool **sign – spiral appearance to the spermatic cord and blood vessels.

Question 5

Precocious puberty

development of secondary sexual characteristics before 8Y in F & 9Y in M

Answer 5

Some are gonadatrophin dependent (premature activation of pituitary axis FSH & LH raised) Brain neoplasms, neurodisability, head trauma
Gonadatrophin independent (excess sex hormones FSH and LH reduced. Ovarian cysts, testicular cancers, Adrenal tumours

In Males
- Bilateral enlargement suggests gonadotrophin-dependent
- Prepubertal testes suggests gonadotrophin-independent
- Unilateral enlarged testis suggests gonadal tumour

• Suppression of the axis with a long acting GnRH analogue – down regulate receptors and reduce LH/FSH levels. Administered by SC or IM injection every month generally.

Question 6

Delayed Puberty Management

defined as the absence of pubertal development by 13Y in F or 14Y in M

Short stature: Turners, Noonan’s, Prader willi
Normal stature: PCOS, Androgen insensitivity, Kallmans, Klinefelters.

Answer 6

Management involves treating the underlying condition where there is one.
* Those with constitutional delay may only require reassurance and observation.
* Puberty can be induced in boys after 14 years, usually with low dose IM testosterone.
* Girls may be treated with oestradiol for several months to induce puberty.

Hypogonadotropic hypogonadism – deficiency of LH and FSH
Hypergonadotropic hypogonadism– lack of response to LH and FSH by the gonads.

Question 7

Acquired Hypothyroidism

Hashimotos thryoditis

The most common cause of hypothyroidism in children (juvenile hypothyroidism) is autoimmune thyroiditis. Others incl. pot total-boy irradiation. Iodine Deficiency.

Answer 7

• underactive thyroid gland when it was previously functioning normally.
• In Hashimoto’s thyroiditis, there is autoimmune inflammation of the thyroid gland - Anti TPO antibodies
• Blood tests: low levels of T3 and T4 & High level of TSH
• Management; Treatment is with levothyroxine medication. Doses titrated based on thyroid function tests and symptoms.

Can lead to slipped upper femoral epiphyses, pseudo-puberty in children

Question 8

X linked

Kallman’s Syndrome

Delayed puberty due to hypogonadotropic hypogonadism

Answer 8

• Delayed puberty in boy with anosmia
• Hypogonadism, cryptochidism
• Low LH and FSH

Management
testosterone supplementation
gonadotrophin supplementation may result in sperm production if fertility is desired later in life