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P30 Pediatrics
Endocrinology Toronto Notes 2019
Clinical Presentation
• dependsonwhichenzymeincortisolsynthesispathwayisdefective • presentation of 21-OH deficiency can be divided into:
■ classic deficiency with salt wasting: inadequate aldosterone resulting in FTT, hyperkalemia, hyponatremia, hypoglycemia, acidosis (majority of classic CAH types)
■ classic deficiency without salt wasting: simple virilization with adequate aldosterone levels
◆ females typically present with amenorrhea, precocious puberty, polycystic ovaries, hirsutism ◆ males typically asymptomatic at birth, may show hyperpigmentation (from overproduction of
melanocyte stimulating hormone), penile enlargement, rapid growth and accelerated skeletal
maturation; present with signs of virilization later in life
■ non-classic CAH – mild androgen excess, sometimes asymptomatic, virilization present later in life,
rarely associated with Addisonian crises
• 21-OHdeficiencyscreeningispartofmanynewbornscreeningprogramsacrossNorthAmerica
• highserumlevelsof17-OHprogesteroneinrandombloodsamplediagnosticfor21-OHdeficiency
■ assess plasma ACTH, serum electrolytes, plasma glucose, plasma aldosterone, plasma renin activity, blood gas
■ ultrasound – look for enlarged adrenal gland and presence of uterus
Management
• correctanyabnormalitiesinfluids,electrolytes,orserumglucose
• provideglucocorticoids(e.g.hydrocortisone)/mineralocorticoids(fludrocordisone)asnecessaryto
reduce ACTH levels, extra glucocorticoids in times of stress
• psychosocialsupport
Prognosis
• complicationsifuntreatedincludevirilization,acne,saltwasting,hypotension
NORMAL PUBERTAL DEVELOPMENT
Physiology
• pubertyoccurswiththematurationoftheHPGaxis
• h pulsatile release of GnRH → h release of LH and FSH → maturation of gonads, release of sex steroids
→ secondary sexual characteristics
• adrenalproductionofandrogensalsorequired
Females
• onset:age8-13yrold(maystartasearlyas7yringirlsofAfricandescent) • usualsequence
1. thelarche: breast budding
2. pubarche: axillary hair, body odour, mild acne
3. growth spurt
4. menarche: mean age 12.5 yr; indicates that growth spurt is almost complete; menses may be
irregular in duration and length of cycle
• earlypubertyiscommonandoftenconstitutional,latepubertyisrare(ruleoutorganiccauses)
Males
• onset:age9-14yrold
• usualsequence
1. testicular enlargement
2. penile enlargement
3. pubarche: axillary and facial hair, body odour, mild acne 4. growth spurt: occurs later in boys
• earlypubertyisuncommon(ruleoutorganiccauses),latepubertyiscommonandoftenconstitutional
• gynecomastia(transientdevelopmentofbreasttissue)isacommonself-limitedconditionseenin50%
of males during puberty (but any discharge from nipple or fixed mass should be investigated)
Tanner Staging
• scaleusedinpediatricsthatdefinesphysicalmeasurementsofdevelopmentbasedonexternalprimary and secondary sex characteristics