Normal Puberty

•    Girls:

o    Sequence: thelarche (breast development) → pubarche (pubic/axillary hair) → menarche

•    Boys:

o    Sequence: testicular enlargement → pubarche

•    Normal onset:

o    Girls: 8–13 years

o    Boys: 9–14 years

Delayed Puberty

•    Girls: no breast development by age 13 or no menarche by 15

•    Boys: no testicular enlargement by age 14

•    Most common cause: constitutional delay

•    Must exclude hypogonadism:

o    Hypergonadotropic: e.g. Turner’s (45,XO), Klinefelter’s (47,XXY)

o    Hypogonadotropic: e.g. Kallmann syndrome, chronic illness, pituitary disease

•    Investigation: FSH/LH, oestradiol/testosterone, bone age, MRI if central cause suspected

Precocious Puberty

•    Girls: <8 years; Boys: <9 years

•    Central (GnRH-dependent):

o    Early activation of HPG axis

o    Causes: idiopathic (common in girls), CNS lesions (boys), hypothalamic hamartoma

•    Peripheral (GnRH-independent):

o    Causes: adrenal tumours, CAH, exogenous sex steroids, McCune–Albright syndrome

•    Diagnosis: LH/FSH, bone age, GnRH stimulation test, imaging if central cause suspected

•    Treatment: GnRH analogues (central), address underlying cause (peripheral)

Short Stature

•    Defined as height <2 SD below the mean for age and sex

•    Causes:

o    Normal variants: familial short stature, constitutional delay

o    Pathological:

    GH deficiency (congenital or acquired)

    Turner’s syndrome (females with XO karyotype – short stature, webbed neck, shield chest)

    Chronic illness, hypothyroidism, skeletal dysplasia

•    Investigation: growth chart, bone age, IGF-1, karyotype (girls), MRI (if GH deficiency suspected)

Polycystic Ovary Syndrome (PCOS)

•    Common endocrine disorder in women of reproductive age

•    Features: hirsutism, irregular menstruation, acne, obesity, subfertility

•    Rotterdam criteria (any 2 of 3):

o    Oligo-/anovulation

o    Clinical/biochemical hyperandrogenism

o    Polycystic ovaries on ultrasound

•    Hormonal profile: ↑ LH:FSH ratio, ↑ androgens, insulin resistance

•    Management:

o    Lifestyle: weight loss improves ovulation

o    COCP: regulates cycle, reduces hirsutism

o    Metformin: improves insulin sensitivity

o    Anti-androgens (e.g. spironolactone) if needed

Intersex / Disorders of Sex Development (DSD)

•    Congenital conditions with discordance between chromosomal, gonadal, or phenotypic sex

•    Categories:

o    46,XX DSD: usually virilisation due to CAH (↑ androgens)

o    46,XY DSD: testicular tissue but undervirilised phenotype (e.g. androgen insensitivity syndrome)

o    Ovotesticular DSD: rare, both ovarian and testicular tissue

•    Investigation: karyotype, hormonal panel (testosterone, DHT, 17-OHP), pelvic imaging

•    Management: multidisciplinary – endocrinology, urology, psychology, genetics