Endocrine and reproductive Flashcards
What are the complications of undescended testes?
- Infertility
- Torsion
- Testicular cancer
- Psychological
What is the management of undescended testes?
Unilateral undescended testis
Referral should be considered from around 3 months of age, Urological surgeon before 6 months of age
Orchidopexy: Surgical practices vary although the majority of procedures are performed at around 1 year of age
Bilateral undescended testes
Should be reviewed by a senior paediatrician within 24hours
What are the different types of growth?
Infancy (birth to 2-years-old)
Childhood (3 to 11-years-old)
Puberty (12 to 18-years-old)
What factors is growth driven by?
Environmental: this is the most important factor affecting fetal growth e.g. maternal nutrition and uterine capacity
Placental
Hormonal
Genetic: predominately maternal
What monitoring of growth should be done and when?
Infants aged 0-1 years
5 recordings of weight
Children aged 1-2 years
3 recordings of weight
Children older than 2 years
Annual recording of weight
Children below 2nd centile
Reviewed by their GP
Children below 0.4th centile
Should be reviewed by a paediatrician
What are the symptoms of hypothyroidism in children?
- Yellowing of the skin and whites of the eyes (jaundice).
- A large, protruding tongue.
- Difficulty breathing.
- Hoarse crying.
- An umbilical hernia.
What is the cause of hypothyroidism?
-
Autoimmune disease
- Hashimoto’s thyroiditis
-
Worldwide
- Iodine deficiency
What is the diagnosis of hypothyroidism?
Blood tests
Low thyroxine and high TSH
What is the treatment of hypothyroidism?
- Levothyroxine
- Interacts with
- Iron, calcium carbonate
- Absorption of levothyroxine reduced, give at least 4 hours apart
What is Klinefelter’s syndrome?
Klinefelter’s syndrome is associated with karyotype 47, XXY
What are the features of Klinefelter’s syndrome?
- Often taller than average
- Lack of secondary sexual characteristics
- Small, firm testes
- Infertile
- Gynaecomastia - increased incidence of breast cancer
- Elevated gonadotrophin levels
How do you diagnose Klienfelter’s syndrome?
Chromosomal analysis
What is Kallman’s syndrome (hypogonadotropic hypogonadism)?
Kallman’s syndrome is a recognised cause of delayed puberty secondary to hypogonadotrophic hypogonadism
+ impaired snese of smell
What is the cause of Kallman’s syndrome?
It is usually inherited as an X-linked recessive trait.
Kallman’s syndrome is thought to be caused by failure of GnRH-secreting neurons to migrate to the hypothalamus.
What are the features of Kallman’s syndrome?
- ‘Delayed puberty’
- Hypogonadism, cryptorchidism
- Anosmia
- Sex hormone levels are low + LH, FSH levels are inappropriately low/normal
- Patients are typically of normal or above average height
- Cleft lip/palate and visual/hearing defects are also seen in some patients
How do you diagnose Kallman’s syndrome?
- Lack of sexual maturation
- Altered sense of smell
- Genetic testing
- LOW TESTOSTERONE
- LOW LH/FSH
What is the treatment of Kallman’s syndrome?
- Hormone replacement therapy (testosterone or oestrogen)
- Bone mineral density
What is androgen insensitivity syndrome?
X-linked recessive condition
Due to end-organ resistance to testosterone
Causing genotypically male children (46XY) to have a female phenotype.