endocrine/ reproductive

Question 1

How do the testes develop and migrate in males?

Answer 1

The testes develop in the abdomen and migrate down through the inguinal canal into the scrotum, typically reaching the scrotum before birth

Question 2

What is the condition called when testes have not descended by birth?

Answer 2

known as undescended testes or cryptorchidism, occurring in about 5% of boys.

Question 3

Give 3 RFs for undescended testes

Answer 3

• Low birth weight
• Small for gestational age
• Prematurity

Question 4

What is the management approach for unilateral undescended testes in newborns?

Answer 4

• Watchful waiting: Appropriate in newborns, as most testes descend in the first 3 months
• referral should be considered from around 3 months, ideally seeing a urological surgeon before 6 months of age
• Orchidopexy: Surgical correction between 6 and 12 months of age.

Question 5

What is the management for bilateral undescended testes?

Answer 5

should be reviewed by a senior paediatrician within 24 hours, as the child may need urgent endocrine or genetic investigations.

Question 6

What is the difference between a retractile testis and an undescended testis?

Answer 6

A retractile testis can be easily manipulated into the scrotum without tension, whereas an undescended testis cannot be moved down into the scrotum easily

Question 7

Give 3 complications of undescended testis

Answer 7

• infertility
• torsion
• testicular cancer

Question 8

What are the two types of hypothyroidism in children

Answer 8

can be congenital or acquired

Question 9

Why is thyroid hormone essential, and what are the risks of undiagnosed hypothyroidism in children?

Answer 9

• Thyroid hormone is crucial for the development and functioning of the brain and body
• Undiagnosed hypothyroidism can result in significant neurodevelopmental problems and intellectual disability.

Question 10

What is congenital hypothyroidism

Answer 10

when a child is born with an underactive thyroid gland

Question 11

What causes congenital hypothyroidism

Answer 11

• Dysgenesis: An underdeveloped thyroid gland.
• Dyshormonogenesis: A fully developed gland that produces insufficient hormone
• Iodine deficiency (mc cause in developing world)
• rarely, issues with the pituitary or hypothalamus.

Question 12

How is congenital hypothyroidism typically detected in infants?

Answer 12

Most infants with congenital hypothyroidism are detected through routine neonatal biochemical screening (Guthrie test), which identifies raised TSH levels in the blood

Question 13

What are the clinical features of congenital hypothyroidism?

Answer 13

• Faltering growth
• Feeding problems
• Prolonged jaundice
• Constipation
• Pale, cold, mottled, dry skin
• Large tongue
• Delayed development

Question 14

What is acquired hypothyroidism?

Answer 14

when a child or adolescent develops an underactive thyroid gland after previously normal function

Question 15

What is the most common cause of acquired hypothyroidism?

Answer 15

autoimmune thyroiditis, aka Hashimoto’s thyroiditis, which causes autoimmune inflammation of the thyroid gland

Question 16

What antibodies are associated with Hashimoto’s thyroiditis?

Answer 16

antithyroid peroxidase (anti-TPO) antibodies and antithyroglobulin antibodies

Question 17

What are some autoimmune conditions associated with acquired hypothyroidism?

Answer 17

type 1 diabetes
vitiligo
coeliac disease

Question 18

What are the symptoms of acquired hypothyroidism?

Answer 18

• Fatigue and low energy
• Weight gain
• short stature/ poor growth
• Poor school performance/ concentration
• Constipation
• cold intolerance
• Dry skin and hair loss

Question 19

How is hypothyroidism managed

Answer 19

• Levothyroxine once daily
• Doses are titrated based on thyroid function tests and symptoms.

Question 20

What is Kallmann’s syndrome?

Answer 20

a genetic condition that causes delayed puberty due to hypogonadotropic hypogonadism

Question 21

How is Kallmann’s syndrome inherited?

Answer 21

typically inherited as an X-linked recessive trait

Question 22

What causes Kallmann’s syndrome?

Answer 22

results from the failure of GnRH-secreting neurons to migrate to the hypothalamus

Question 23

What are the features of Kallmann’s syndrome?

Answer 23

• Delayed puberty
• Hypogonadism and cryptorchidism
• Anosmia (loss of sense of smell)
• Low sex hormone levels
• Inappropriately low/normal LH and FSH levels
• Typically normal or above-average height

Question 24

What is the management for Kallmann’s syndrome?

Answer 24

• Testosterone supplementation
• Gonadotrophin supplementation may help achieve sperm production if fertility is desired later in life.