Hypogonadism (male and female) Flashcards Preview

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Flashcards in Hypogonadism (male and female) Deck (12)
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1
Q

What is female hypogonadism?

A

Characterised by impairment of ovarian function

2
Q

What is the aetiology of female hypogonadism?

A

Primary hypogonadism (hypergonadotrophic) - Gonadal dysgenesis: Chromosomal abnormalities (e.g. Turner’s syndrome), FMR1 gene pre-mutation carriers (CGG repeats between 55&200) - Gonadal damage: Autoimmune, iatrogenic (chemotherapy, radiation, surgery) - Secondary hypogonadism (hypogonadotrophic) - Functional: Stress, weight loss, excessive exercise, eating disorders (anorexia nervosa, bulimia) - Pituitary/hypothalamic tumours and infiltrative lesions: Pituitary adenomas, craniopharyngiomas, haemochromatosis - Hyperprolactinaemia: Prolactinomas or tumours causing pituitary stalk compression - Congenital GnRH deficiency: Kallmann’s syndrome, idiopathic

3
Q

What is the epidemiology of female hypogonadism?

A

Symptoms of oestrogen deficiency - Night sweats, hot flush, vaginal dryness and dyspareunia - Reduced libido, infertility - Symptoms of underlying cause

4
Q

What are the signs of female hypogonadism on examination?

A

Pre-pubertal hypogonadism: - Delayed puberty (primary amenorrhoea, absent breast development, no secondary sexual characteristics) - Eunuchoid proportions (e.g. long legs, increased arm span for height) Post-pubertal hypogonadism: - Regression of secondary sexual characteristics (loss of secondary sexual hair, breast atrophy). Perioral and periorbital fine facial wrinkles - Signs of underlying cause/ associated symptoms - Hypothalamic/pituitary disease: Visual field defects - Kallmann’s syndrome: Anosmia - Turner’s syndrome: Short stature, low posterior hairline, high arches palate, widely spaced nipples, wide carrying angle, short fourth and fifth metacarpals, congenital lymphoedema - Patient’s with autoimmune primary ovarian failure: Signs of autoimmune disease e.g. hyperpigmentation in Addison’s disease or vitiligo

5
Q

What are the investigations for female hypogonadism?

A
  • Reduced serum oestradiol. Serum FSH & LH: Raised in primary (due to decreased feedback inhibition by ovarian oestradiol and inhibin). Reduced or inappropriately normal FSH/LH in secondary hypogonadism - Investigation to determine the aetiology - Primary: Karyotype (to look for chromosomal abnormalities: complete or partial deletion of the X chromosome in Turner’s syndrome or presence of Y chromsome. Pelvic imagine: in pts with primary amenorrhoea, to demonstrate presence or absence of uterus and vagina and vaginal or cervical outlet obstruction (Mullerian agenesis, androgen insensitivity, transverse vaginal septum, imperforate hymen - In unexplained pre-mature ovarian failure: screening for pre-mutation in FMR1 gene after appropriate genetic counselling and informed consent - Secondary: Pituitary function tests (9am cortisol, TFTs, prolactin), visual field testing, hypothalamic-pituitary MRI, smell tests for anosmia. Serum transferrin saturation if hereditary haemochromatosis is suspected - Turner’s: Periodic echo and cardio follow-up. Renal USS - Autoimmune oophoritis: Evaluate for autoimmune adrenal insufficiency
6
Q

What is male hypogonadism?

A

A syndrome of reduced testosterone production, sperm production or both

7
Q

What is the aetiology of primary male hypogonadism?

A
  • Gonadal dysgensis: Klinefelter’s syndrome (XXY), undescended testes (cryptochidism) - Gonadal damage: Infection (e.g. mumps), torsion, trauma, autoimmune, iatrogenic (chemotherapy, surgery, radiation) - Rare causes: Defects in enzymes involved in testosterone synthesis, myotonic dystrophy
8
Q

What is the aetiology of secondary male hypogonadism?

A
  • Pituitary/hypothalamic lesions - GnRH deficiency: Kallmann’s syndrome (associated with anosmia), idiopathic - Hyperprolactinaemia - Systemic/chronic diseases - Rare causes: Genetic mutation. Secondary hypogonadism may be seen in a number of are syndromes - Prader-Willi syndrome: Loss of critical region on chromosome 15 causing obesity and short stature, small hands, almond-shaped eyes, learning difficulty/postnatal hypotonia - Laurence-Moon-Biedl syndrome: Obesity, polydactyly, retinitis pigmentosa, learning difficulty
9
Q

What is the epidemiology of male hypogonadism?

A
  • Primary accounts for 30-40% of male infertility, secondary accounts for 1-2% - Most common cause of primary hypogonadism is Klinefelter’s syndrome
10
Q

What are the presenting symptoms of male hypogonadism?

A
  • Delayed puberty ( f the onset is before puberty) - Reduced libido, impotence, infertility - Symptoms of underlying cause e.g. Klinefelter’s syndrome: intellectual dysfunction and behavioural abnormalities which cause difficulty in social interactins
11
Q

What are the signs of male hypogonadism on examination?

A
  • Measure testicular volume using Prader’s orchidometer (ellipsoids of different sizes) Normal adult testicular volume: 15-25 ml Pre-pubertal hypogonadism: - Signs of delayed puberty (high pitched voice, reduced pubic/axillary/facial hair, small or undescended testes, small phallus), gynaecomastia, eunuchoid proportions, arm span more than height, lower segment larger than upper segment ( delayed fusion of epiphyses and continued growth of bones) - Features of underlying cause e.g. cryptochidism, anosmia in Kallmann’s Postpubertal hypogonadism: - Reduced pubic/axillar/facial hair, soft and small tests, gynaecomastia, fine perioral wrinkles. Features of the underlying cause e.g. visual field defects due to pituitary tumour, signs of systemic chronic illness
12
Q

What are the investigations for male hypogonadism?

A
  • Serum total testosterone, SHB and albumin, LH & FSH - Primary: Reduced testosterone, raised LH and FSH (neg feedback) - Secondary: Reduced testosterone, reduced or inappropriately normal LH/FSH Determine level of defect: - Primary: karyotype (exclude Klinefelter’s) - Secondary: Pituitary function tests, MRI of hypothalamic pituitary area, visual field testing, smell tests for anosmia. Iron studies if hereditary haemochromatosis suspected - Bone age: In boys with delayed puberty: determined by comparison of radiograph of patient’s bones in left hand and wrist with bones of a standard atlas (allows assessment of skeletal maturation and potential for future skeletal growth