Diff daignosis of hyperandrogenism

Question 1

Classification for hirsutism

Answer 1

• Ferriman-Gallwey score
• Rates hair growth severity from 0–4
• Scores 11 different body areas (upper lip, chest, chin, lower back, upper back, lower abdomen, upper abdomen, forearm, arm, thigh, and lower leg)
• A score of 8 or more is indicative of hirsutism

Question 2

Clinical features associated with hyperandrogenism

Answer 2

• Height, weight and body mass index.
• Distribution and extent of adiposity.
• Skin thinning or bruising (seen in Cushing’s syndrome).
• Acne, especially over the face, neck, back and chest.
• Degree, pattern and severity of hirsutism.
• Acanthosis nigricans (velvety skin hyperpigmentation), associated with insulin resistance.
• Deepened voice.
• Male pattern balding.
• Breast atrophy.
• Clitoromegaly.
• Loss of normal feminine body shape.

Question 3

Diff diagnosis of hyperandrogenism

Answer 3

• PCOS
• Ovarian hyperthecosis
• Congenital adrenal hyperplasia
• Cushing’s syndrome
• Androgen-secreting tumour
  
  • Adrenal origin
  • Ovarian origin
• Exogenous androgen administration
• Gestational hyperandrogenism

Question 4

Ovarian hyperthecosis

Answer 4

• Postmenopausal women
• Presence of luteinised theca cell nests in the ovarian stroma
• More severe hyperandrogenism and virilisation
• Testosterone concentrations are much higher than in PCOS and may exceed 7 nmol/l

Question 5

Congenital adrenal hyperplasia

Answer 5

• Autosomal recessive disorders
• Chronically elevated adrenocorticotrophic hormone (ACTH)
• Classic 21-hydroxylase deficiency presents in infancy. Female infants can be severely virilised leading to ambiguous genitalia. Salt wasting and adrenal crises are important causes of neonatal death.
• Non-classic 21-hydroxylase deficiency present in puberty, or later in adult life. The mutated enzymes in the cortisol biosynthetic pathways maintain 20–60% of normal function
• Features of hyperandrogenism but have preserved cortisol and aldosterone production
• Female patients can present in early adulthood with menstrual disturbance or hirsutism
• Males and females may exhibit precocious puberty with tall stature at pubarche, advanced bone age with early epiphyseal fusion, infertility and severe acne, which is refractory to treatment. It is responsible for around 2% of cases of hyperandrogenism in women and occurs in around 1:100 Caucasians
• Increased prevalence in Eastern European Jews and Hispanic and Mediterranean populations
• The remaining patients with congenital adrenal hyperplasia have either 11-β-hydroxylase deficiency or 3-β-hydroxysteroid deficiency

Question 6

Cushing’s syndrome

Answer 6

• Rare but important cause of androgen excess
• Hirsutism is present in approximately 80% of patients
• Centripetal weight gain, facial plethora, supraclavicular fat pads, abdominal striae and signs of hyperandrogenism, such as hirsutism, acne and male pattern baldness
• It can be secondary to an ACTH secreting pituitary tumour (Cushing’s disease), autonomous cortisol secretion by the adrenal glands due to adrenocortical neoplasms or hyperplasia,[20] exogenous administration of glucocorticoids or ectopic ACTH secretion in neoplasia including small cell lung carcinomas and carcinoid tumours

Question 7

Androgen secreting tumours

Answer 7

• Often mimic PCOS
• Sudden onset and rapid progression of hyperandrogenism and early development of frank virilisation
• The most common virilising ovarian tumours are Sertoli Leydig cell tumours and account for 0.5% of all ovarian neoplasms
• Other virilising ovarian tumours include granulosa cell, hilar cell and Brenner tumours
• Characterised by striking elevations in serum testosterone but normal DHEA-S and urinary 17-ketosteroids
• Markedly elevated serum testosterone, DHEA-S, and urinary 17-ketosteroid levels, which are not suppressed with dexamethasone, suggest an androgen-secreting tumour which is not ovarian in origin

Question 8

Exogenous androgen administration

Answer 8

• Anabolic androgen steroids

- Lead to acne vulgaris, hirsutism, seborrheic cutaneous changes and striae

Question 9

Gestational hyperandrogenism

Answer 9

• Total testosterone levels rise during pregnancy, serum SHBG also increases, which protects both the mother and fetus from clinical hyperandrogenism
• Luteomas and theca lutein cysts of the ovary
• Unilateral solid ovarian lesions complicated by androgen excess have an increased risk of malignancy when presenting in pregnancy