Diagnostic approach Step 1: History Secondary sexual characteristics and height Symptoms of virilization Stress, weight, diet, and exercise Galactorrhea Headaches, visual field defects, polyuria , polydipsia Neonatal and childhood health Drugs Family history of delayed puberty
Diagnostic approach Step 2: Physical examination Height, weight, BMI Breast development Genital examination Skin examination Features of Turner syndrome
Diagnostic approach and the anorexic winners are…
Diagnostic approach
Diagnostic approach
Diagnostic approach
Diagnostic approach
Diagnostic approach
Diagnostic approach
Diagnostic approach Step 3: Investigations Uterus absent karyotype serum testosterone Uterus present FSH (then karyotype or MRI) prolactin and TSH serum testosterone and DHEA-S CYP17 deficiency tests
Treatment Aims: underlying pathology, fertility, complications Hypothalamic and pituitary causes Functional → weight gain, reduce exercise intensity, resolution of illness or emotional stress, hormone replacement, exogenous gonadotrophins or pulsatile GnRH Congenital → exogenous gonadotrophins or pulsatile GnRH Infiltrative diseases and hyperprolactinemia → specific treatment
Diagnostic approach Diagnostic criteria (Rotterdam) for PCOS are two out of three CAH, Cushing syndrome, and androgen-secreting tumors must be excluded