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.
What are the features of androgen insensitivity syndrome?
‘Primary amenorrhoea’
External genitalia is feminine but vagina is blind ending, no ovaries or uterus
Undescended testes causing groin swellings
Breast development may occur as a result of conversion of testosterone to oestradiol
What is the diagnosis of androgen insensitivity syndrome?
Buccal smear or chromosomal analysis to reveal 46XY genotype
What is the management of androgen insensitivity syndrome?
- Counselling - raise child as female
- Bilateral orchidectomy (increased risk of testicular cancer due to undescended testes)
- Oestrogen therapy
What is the first sign of pubery in males and when does the height spurt happen?
- First sign is testicular growth at around 12 years of age (range = 10-15 years)
- Testicular volume > 4 ml indicates onset of puberty
- Maximum height spurt at 14
What is the first sign of puberty in females and when does menarche occur?
irst sign is breast development at around 11.5 years of age (range = 9-13 years)
height spurt reaches its maximum early in puberty (at 12) , before menarche
menarche at 13 (11-15)
there is an increase of only about 4% of height following menarche
What are some normal changes in puberty?
Gynaecomastia may develop in boys
Asymmetrical breast growth may occur in girls
Diffuse enlargement of the thyroid gland may be seen
What is congenital adrenal hyperplasia?
- Group of autosomal recessive disorders
- Affect adrenal steroid biosynthesis
Two principal effects result from the enzyme deficiency:
- Deficient cortisol and/or aldosterone production
- Excess precursor steroids
What ist the cause of congenital adrenal hyperplasia?
21-hydroxylase deficiency (90%)
11-beta hydroxylase deficiency (5%)
17-hydroxylase deficiency (very rare)
What are the symptoms of congenital adrenal hyperplasia?
-
Classic CAH
- Female
- Ambiguous genitalia
- Male
- Normal appearing genitals.
- Appearance of pubic hair at a very early age
- Rapid growth during childhood, but shorter than average final height
-
Nonclassic CAH
- Irregular or absent menstrual periods
- Masculine characteristics such as facial hair, excessive body hair and a deepening voice
- Severe acne
- In both females and males, signs of nonclassic CAH may also include:
- Early appearance of pubic hair
- Rapid growth during childhood, an advanced bone age and shorter predicted final height
How do you diagnose congenital adrenal hyperplasia?
- Hyponatremia - NO ALDOSTERONE
- Hyperkalaemia - NO ALDOSTERONE
- Metabolic acidosis
- Hypoglycaemia - NO CORTISOL
NO CORTISOL + ALDOSTERONE
What is the treatment of congenital adrenal hyperplasia?
Hydrocortisone
Replace cortisol
Fludrocortisone
Salt-retaining steroid such as
What is the treatment of a salt losing crisis in congenital adrenal hyperplasia?
- Intravenous saline
- Glucose
- Hydrocortisone
WHAT IS TESTICULAR TORSION?
Testicular torsion happens when a spermatic cord becomes twisted, cutting off the flow of blood to the attached testicle.
What are the symptoms of testicular torsion?
Sudden onset of pain in one testis, which makes walking uncomfortable. Pain in the abdomen, nausea, and vomiting are common.
What are the signs of testicualr torsion?
Inflammation of one testis—it is very tender, hot, and swollen. The testis may lie high and transversely.
What are the differential diagnosis of testicular torsion?
Epididymo-orchitis
Tumour
Hydrocele
What are the tests for testicular torsion?
Cremasteric reflex is lost
Elevation of the testis does not ease the pain (Prehn’s sign)
Surgical exploration
What are the treatments for testicular torsion?
-
Urgent surgical exploration
- If a torted testis is identified then both testis should be fixed as the condition of bell clapper testis is often bilateral
- Can untwist on its own
WHAT IS PRECOCIOUS PUBERTY?
Development of secondary sexual characteristics before 8 years in females and 9 years in males’
more common in females
What does thelarche and adrenarche mean?
- Thelarche (the first stage of breast development)
- Adrenarche (the first stage of pubic hair development)
What are the different types of prococious puberty?
- Gonadotrophin dependent (‘central’, ‘true’)
- Due to premature activation of the hypothalamic-pituitary-gonadal axis
- FSH & LH raised - Gonadotrophin independent (‘pseudo’, ‘false’)
- Due to excess sex hormones
- FSH & LH low
What are the causes of precocious puberty?
-
Males - uncommon and usually has an organic cause
- Testes
- Bilateral enlargement = gonadotrophin release from intracranial lesion
- Unilateral enlargement = gonadal tumour
- Small testes = adrenal cause (tumour or adrenal hyperplasia)
-
Females - usually idiopathic or familial and follows normal sequence of puberty
- Organic causes
- Are rare, associated with rapid onset, neurological symptoms and signs and dissonance
- e.g. McCune Albright syndrome
What are investigation for precocious puberty?
- Sex hormones
-
Pituitary hormones
FSH + LH, High in true, Low in flase - Bone age
- LHRH stimulation test
- CT for visualisation of the pituitary stalk
What is the treatment of precocious puberty?
-
GnRH dependent precocious puberty
GnRH analogues - goserelin, leuprorelin -
GnRH indepdendent precocious puberty
Depends on underlying cause
WHAT IS GONADOTROPIN DEFICIENCY?
Gonadotrophin deficiency usually involves both LH and FSH but rarely affects either alone.
What is the difference between gonadotrophin deficiency and familial late puberty?
- The differentiation is difficult before the age of 16.
- In the familial condition there is usually a family history and some modest penile and breast development.
What are the clinical features of gonadotrophin deficiency?
Delayed puberty
Diagnostic clues for the male include:
Micropenis
Cryptorchidism
WHAT ARE SOME CAUSES OF OBESITY IN CHILDREN?
- Growth hormone deficiency
- Hypothyroidism
- Down’s syndrome
- Cushing’s syndrome
- Prader-Willi syndrome
What are some 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
