Disorders of Sex Hormones Flashcards
What are the causes of delayed puberty with short stature?
Turner’s syndrome
Prader-Willi syndrome
Noonan’s syndrome
What are the causes of delayed puberty without short staure?
Polycystic ovarian syndrome
Androgen insensitivity
Kallman’s syndrome
Klinefelter’s syndrome
What is Kallmann’s syndrome?
X linked recessive cause of delayed puberty, secondary to hypogonadotropic hypogonadism, thought to be caused by failure of GnRH-secreting neurons to migrate to the hypothalamus
How does Kallmann’s syndrome present?
Delayed puberty’
Hypogonadism, cryptorchidism
Anosmia
Patients are typically of normal or above average height
Cleft lip/palate and hearing/visual defects are sometimes seen
What is the biochemical profile of Kallmanns syndrome?
Sex hormone levels are low
LH, FSH levels are inappropriately low/normal
What is Klinefelter’s syndrome?
Genetic cause of delayed puberty due to primary hypogonadism
What karyotype is associated with Klinefelters syndrome?
47 XXY
How does Klinefelters syndrome present?
Often taller than average
Lack of secondary sexual characteristics
Small, firm testes
Infertile
Gynaecomastia
What is the biochemical profile of Klinefelters syndrome?
High LH
Low testosterone
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
How does androgen insensitivity syndrome present?
Primary amenorrhoea
Undescended testes causing groin swellings
Breast development may occur as a result of conversion of testosterone to oestradiol
What conditions is growth hormone therapy indicated for?
Proven growth hormone deficiency
Turner’s syndrome
Prader-Willi syndrome
Chronic renal insufficiency before puberty
Give adverse affects of growth hormone therapy
Headache
Benign intracranial hypertension
Fluid retention
