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Puberty Disorders

Puberty Disorders. Dr. Sarar Mohamed MBBS, FRCPCH(UK), MRCP (UK), MRCPCH(UK), DCH(Ire), CCST(Ire), CPT(Ire), MD Consultant Pediatric Endocrinologist & Metabolic Physician Assistant Professor of Pediatrics King Saud University. Definition of puberty. What is puberty?

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Puberty Disorders

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  1. Puberty Disorders Dr. Sarar Mohamed MBBS, FRCPCH(UK), MRCP (UK), MRCPCH(UK), DCH(Ire), CCST(Ire), CPT(Ire), MD Consultant Pediatric Endocrinologist & Metabolic Physician Assistant Professor of Pediatrics King Saud University

  2. Definition of puberty • What is puberty? • It is the transitional period of development during which an individual mature from childhood to physical, psychosocial, sexual & reproductive maturity

  3. PUBERTY Gonadal maturation with acquisition of secondary sexual characteristics and associated growth spurt FERTILITY AND FINAL HEIGHT

  4. Endocrine Regulation • Negative feedback: • Inhibits GnRH from hypothalamus. • Inhibits anterior pituitary response to GnRH. • Inhibin secretion inhibits anterior pituitary release of FSH. • Female: • Estrogen and progesterone. • Male: • Testosterone. Insert fig. 20.9

  5. Onset of puberty • The age of onset of puberty -Females ----8-13 -Males -----9-14 • Average age of onset: • GIRLS 10 to 11 years (range 8 to 13 years) • BOYS 11 to 12 years (range 9 to 14 years)

  6. Duration of puberty • The time from onset to completion of puberty Average 4.2 Y Range 1.5-6 Y

  7. Factors That Affect Puberty • Genetics • Race/Ethnicity • Previous nutrition • Subcutaneous fat • Birth weight • Obesity • Increased leptin and estrogen production • Insulin stimulation of ovaries & uterus

  8. Initial signs of puberty • GIRLS – Breast Development • BOYS – Testicular Enlargement • Volume > 3.0 cm³ • Length > 2.5 cm

  9. Growth in puberty Insert fig. 20.10

  10. Evaluation of disorder of puberty CLINICAL ASSESSMENT • History • Behavioural changes • Pubertal staging • Skin examination • Height measurement / Growth velocity • Bone age assessment • Hormone study if needed

  11. Assessment of Puberty History • Parents • onset of puberty • Menarche • Male Age of first shaving regularly • Parental heights (MPH) • prenatal and perinatal (exposure to exogenous sex steroids in intrauterine period; birth weight, perinatal asphyxia) • Concomitant illnesses, postnatal exposureto sex steroids • time of first sign of puberty • Thelarche (galactorrhea) • Adrenarche/pubarche (body odor, axillary & pubic hair, acne) • Menarche • Gonadarche

  12. History • Important to include: • Past medical history (history of brain tumor, radiation, chemotherapy, known genetic disorder, chronic disease affecting growth) • Eating habits • Any evidence of disordered eating • Activity level • Is exercise excessive or is this an athlete with a high level of training • Growth history • Previous growth chart can be extremely helpful

  13. History • Review of Systems • CNS: visual changes/visual field abnormalities, headaches, anosmia • Cardiac: congenital anomaly • Respiratory: asthma • Renal: • GI: diarrhea, blood in stools

  14. Physical Examination • Examination of Growth • Height • Weight • Pubertal Assessment (Tanner staging) • Axillary hair • Pubic hair & staging • Breast development & staging • Genital development & staging • skin, hair, thyroid • Neurological assessment

  15. Growth charts

  16. Staging of pubertal development in girls (Tanner) B 1-5, Pu 1-5, A 1-5. (B2 – first sign of female puberty)

  17. Staging of pubertal development in boys (Tanner) G1-5, Pu 1-5, A 1-5, testicular volum > 4 ml – first sign of male puberty

  18. Diagnostic evaluation Laboratory • gonadotropins (FSH, LH) basal and peak after LHRH stimulation (prepubertal LH/FSH<1) • estradiol • testosteron (basal value and value after LH stimulation) • adrenal androgens (17-OHP, A-dion,...) and ACTH bone age Pelvic US (ovarian and uterine size) CT or MRI of adrenals, Brain Vaginoscopy Genetic – karyotype, DNA analysis

  19. Bone age 2 yrs 6 m. 10 yrs 12 yrs

  20. Summary:Variants of puberty Premature thelarché • exclude the start of precocious puberty! Premature adrenarché • exclude simple virilising form of CAH! Premature menarché • exclude vaginal bleeding due to trauma of vagine or rare ovarian cyst! Bone age is not accelerated! FSH and LH levels after LH-RH are normal Gonadal and adrenal steroid levels are normal Pelvic and adrenal ultrasonography is normal Reassurance & f/u

  21. PRECOCIOUS PUBERTY

  22. Landmark Case of Precocious Puberty • 5 year old Lina Medina of Peru • Menses onset age 8 months • Breast development age 4 • Advanced bone maturation age 5 • Was evaluated for abdominal tumor due to increasing abdominal size at age 5 • On 5/14/1939 gave birth to a 2.9 kg baby boy

  23. Definition of Precocious Puberty • ONSET OF PUBERTY BEFORE -Females ----8 years -Males -----9 years • Lawson Wilkins Pediatric Endocrine Society recommended 7 for white girls/ 6 for back • The prevalence • is estimated to be between one in 5,000 to 10,000 children annually in the United States.

  24. Classification Central (true), gonadotropin-dependent Early stimulation of hypothalamic-pituitary-gonadal axis. Peripheral, GnRH independent (precocious pseudopuberty) The source of sex steroid may be endogenous or exogenous, gonadal or extragonadal, independent of gonadotropins stimulation.

  25. True precocious puberty(central, GnRH dependent) Idiopatic, constitional sporadic or familial (common) CNS abnormalities • Congenital (hydrocephalus, arachnoid cysts, ...) • Acquired pathology (posttraumatic, infections, radiation,.. • Tumors (LH secreting pituitary microadenoma, glioma – may be associated with neurofibromatosis, hamartoma,.. • Reversible forms - space occuping or pressure-associated lesion (abscess, hydrocephalus,...) Adopted children or children emigrating from developping countries - Improved nutrition, environmental stability and psychosocial support

  26. True precocious puberty(central, gonadotropin-dependent) Bone age is accelerated FSH and LH elevation after LH-RH is diagnostic test (LH/FSH > 2) LH  LH/FSH ratio < 1  Prepubertal  LH  LH/FSH ratio > 1  Pubertal MRI of CNS is necessary to exclude the neoplasia

  27. Treatment of true precocious puberty • Purpose of treatment • To prevent psychosocial distress • To improve final height outcome • Treat the underlying cause • GnRH analogue • Lupron depot ped, leuprolide acetate • Desensitizes the pituitary • Blocks LH and FSH secretion • Prevents continued sexual development for the duration of the treatment • Growth may almost stop while on therapy • ± addition of growth hormone remains controversy

  28. Precocious pseudopuberty in girls(gonadotropin-independent) McCune - Albright syndrome Ovarian cysts Isolated follicular cysts with E2 production. Self-limiting with spontaneousregression. Ovarian tumors Acceleration of bone age FSH and LH are low after LH-RH stimulation Estrogens are elevated

  29. Precocious pseudopuberty in boys(gonadotropin-independent) Congenital adrenal hyperplasia (CAH) Undiagnosed or inadequately treated simple virilising form of CAH caused by 21-hydoxylase deficiency. Neonatal screening? Testotoxicosis Activating mutation of LH receptor. AD inheredited. Tumors • Gonadal (testosterone-secreting Leydig cell tumor) • Adrenal (adenoma, carcinoma) Exogenous androgens (anabolic steroids – iatrogene, doping) McCune Albright Syndrome Acceleration of bone age FSH and LH are low after LH-RH stimulation Testicular or adrenal steroids are elevated

  30. 21-OHCAH: Depend on the degree Treatment Hydrocortisone Fludrocortisone Desmolase Cholesterol Desmolase 17 a OH Pregnenlolone 17 OH Pregnenlolone DeHydroEpiAndrosterone 3 B HSD 3 B HSD 3 B HSD Androstendione 17 a OH Progesterone 17 OH Progesterone Testosterone Estradiol 21 OH 21 OH • 90 % of CAH • 50-70 % salt wasting • Female = • ambiguous, Hyperpig • Male = • virlization Desoxycorticosterone 11 Desoxycortisol 11 OH 11 OH Corticosterone Cortisol 18 OH 18 OH Corticosterone Aldosterone

  31. Non classicCAH .

  32. Precoccious puberty-treatment Gonadotropin-dependent PP • Idiopathic • GnRH (LH-RH) analog to block LH-RH receptor of pituitary gland • Organic – tumor or cysts • Surgery Gonadotropin independent (pseudopuberty) -treat underline cause • testicular, ovarian or adrenal tumors –surgery • CAH – substitution of corticosteroids

  33. Delayed puberty .

  34. Delayed puberty - definition Initial physical changes of puberty are not present • by age 13 years in girls (or primary amenorhoe at 15.5-16y) • by age 14 years in boys

  35. Types of delayed puberty • Gonadotropin dependent • Hypogonadotropic hypogonadism • Low LH/FSH • Central, chronic disease • Gonadotropin independent • Hypergonadotropic hypogonadism • High LH/FSH • Peripheral cause (gonads)

  36. GnRH or gonadotropin dependent Idiopathic sporadic or familial (associated with constitutional growth delay) Chronic diseases with bone age delay and growth retardation due to different pathophysical mechanismes (malnutrition, anemia, acidosis, hypoxia,...anorexia nervosa, cystic fibrosis, chronic renal insuficiency,..) Psychosocial deprivation

  37. GnRH or gonadotropin dependent Hypogonadotropic hypogonadism Gonadotropin deficiency LH only (fertile eunuch syndrome) FSH and LH - Congenital (genetic, syndromes) - Kallman syndrome –mutation of KAL gene, mutation of DAX1 gene, Prader-Willi syndrome ,... - Acquired - cranial irradiation, hemosiderosis, granulomtous disease Associated with others pituitary hormones deficiencies - Congenital – empty sella syndrome, genetic-transcription factors, disruption of pituitary stalk (breech delivery),... - Acquired – tumors, inflamation, irradiation, trauma....

  38. Kallmann Syndrome

  39. Kallman Syndrome • A syndrome of isolated gonadotropin deficiency • 1/10,000 males, 1/50,000 females • KAL-1 gene • Present with ANOSMIA or HYPOSMIA • Can also be associated with harelip, cleft palate, and congenital deafness

  40. Syndromes Associated with Pubertal Delay • Prader-Willi syndrome • Laurence Moon syndrome • Septo-optic dysplasia • Bardet-Biedl syndrome

  41. Gonadotropin independent(hypergonadotrophic) Boys Congenital Anorchia Chromosomal abnormalities (Klinefelter syndrome, Noonan syndrome…) Disorders in androgen synthesis or action Acquired Autoimunne inflamation (APS) Radio or chemotherapy Traumatic Surgery

  42. Klinefelter’s Syndrome • 45 XXY most common (2/3), • Tall in childhood, with euchanoid body habitus • More female type fat distribution • puberty is delayed • Small testicles & gynecomastia • 90-100% are infertile

  43. Klinefelter's syndrome (Williams Textbook of Endocrinology, 10th ed, 2003)

  44. Gonadotropin independent(hypergonadotrophic hypogonadism) Girls Congenital Billateral ovarian torsion Chromosomal abnormalities (Turner syndrome, pure gonadal dysgenesis, Noonan syndrome…) Acquired Autoimunne inflamation (APS) Radio or chemotherapy Traumatic Surgery

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