Growth and pubertal disorder in children .pptx

Disorders of pubertal growth in children

1. Adolescence is a stage of transformation from childhood to adulthood During this phase a youth undergoes rapid changesin body surface mediated by sex hormone Appearance of sexual character is coupled with changes in cognitiion and psychology Adolescence refers to the whole process,whereas puberty refers to physical aspects only Period of adolescence : 10 -19 years 3 phases Early : 10 -13 years Mid : 14- 16 years Late : 17-19 years

2. PHYSIOLOGY OF PUBERTY

3. ONSET AND SEQUENCE OF PUBERTY In girls: Breast development(Thelarche) at 10-12 years Pubic Hair (Pubarche) development after 6-12 months from thelarche Onset of menstrual cycle( Menarche) 2 to 2 1/2 years after pubarche

4. Boys: Testicular size >/= 4 mLvolume and longest diameter 2.5 cm and thinning of scrotum Pubarche (Pigmentation of scrotum and penis) Axillary hair (during mid puberty)

5. DELAYED PUBERTY Failure of development of any pubertal feature by 13 years of age in female or by 14 years of age in male. More common in boys Causes Central delay Intact axis Impaired axis (hypogonadotropic hyogonadism):due to defect of hypothalamus/pituitary. Gonadal Impairment (high GnRH) /Hypergonadotropic hypogonadism) : High gonadotropin levels due to lack of negative feedback because of gonadal dysgenesis

6. Etiology of delayed puberty in male Hypogonadotropic hypogonadism Hypergonaotropic Hypogonadism Transient Permanent Chromosomal abormality : Klinefelter syndrome,Gonadal dysgenesis Constitutional delay of puberty and growth Isolated hypogonadotropic hypogonadism : Genetic disorders : KAL1,GnRH receptor,LH,FSH,DAX1 mutation Dysmorphic syndromes : CHARGE, Prader-Willi, Laurence-Moon-Bardt-Beidl, Robinow Steroidogenic defects : StAR, 17- α hydroxylase,17- β hydroxylase steroid dehydrogenase deficiency, Smith-Lemli-Opitz syndrome Systemic disorders : Renal failure,liver disease,celiac disease,Renal tubular acidosis,Cystic fibrosis Multiple pituitary hormone deficiencies due to Malformations :Holoprosencephaly,Septo-optic dysplasia,midline defects Genetic disorders : PROP 1, LH gene deletions Brain tumor: Craniopharyngioma,Germinoma,Glioma CNS insults :Surgery, infection,radiation trauma Infiltrative disorders :Histiocytosis,Sarcoidosis,Hemochromatosis Testicular insults : Radiotherapy , Chemotherapy,trauma, torsion ,Infection Nutritional disorders: Malnutrition,anorexia nervosa,bulimia nervosa Malformations : Vanishing testis syndrome, Cryptorchidism Endocrine disorders : Hypothyroidism,hyperprolactinemia,Type I diabetes mellitus Inefficient testosterone action : 5- α reductase deficiency Resistance to testosterone action : Androgen insensitivity syndrome

7. Etiology of delayed puberty in female Hypogonadotropic hypogonadism Hypergonaotropic Hypogonadism Transient Permanent Gonadal dysgenesis : Turner syndrome,SRY deletion,Trisomy 18,13,21 Systemic disorders : Renal failure,liver disease,celiac disease,Renal tubular acidosis,Cystic fibrosis Isolated hypogonadotropic hypogonadism : Genetic disorders : KAL1,GnRH receptor,LH,FSH,DAX1 mutation Dysmorphic syndromes : CHARGE, Prader-Willi, Laurence-Moon-Bardt-Beidl, Robinow Steroidogenic defects : StAR, 17- α hydroxylase,17- β hydroxylase steroid dehydrogenase deficiency or aromatase deficiency Nutritional disorders: Malnutrition,anorexia nervosa,bulimia nervosa Multiple pituitary hormone deficiencies due to Malformations :Holoprosencephaly,Septo-optic dysplasia,midline defects Genetic disorders : PROP 1, LH gene deletions Brain tumor: Craniopharyngioma,Germinoma,Glioma CNS insults :Surgery, infection,radiation trauma Infiltrative disorders :Histiocytosis,Sarcoidosis,Hemochromatosis Ovarian insults : Radiotherapy , Chemotherapy,trauma, torsion ,Infection Autoimmune ovarian failure : Autoimmune poly endocrinopathy Endocrine disorders : Hypothyroidism,hyperprolactinemia,Type I diabetes mellitus Gonadotropin resistance : LH and FSH receptor mutation Isolated amenorrhea : Structural malformations :Mullerian agenesis,Vaginal septum,imperforate hymen Inefficient androgen action : Complete androgen insestivity syndrome

8. Kallmann Syndrome Isolated gonadal deficiency due to mutation of KAL gene (proper neuronal migration of GnRH neurons). AR/AD Form Gonadotropin deficiency Impaired/Absent sense of smell Color blindness Atrial septal defect Renal agenesis

9. Klinefilter syndrome Occurs in 1:500 males Associated with XXY karyotype Reduced intelligence Gynaecomastia Small/Firm testis Testis rarely exceed 5 mL in volume Tall and thin Incomplete virilisation Phallus is small Infertility

10. Turner Syndrome(Ovarian dysgenesis) - Short stature - Ovarian insufficiency - Lymphedema - Webbed neck - Shield chest - Increased Carrying angle - Short 4th metacarpal - Renal anomaly Left side heart defects (Coarctation of aorta/Bicuspid mitral valve) 50 % of effected girls have no stigma except short stature 20% have spontaneous puberty and functioning ovary for atleast short period.

11. APPROACH TO DELAYED PUBERTY Medical history : Trauma / Illness /chemotherapy /radiotherapy/infection /Malnutrition Review of symptoms: Vision Problem/Vomiting/ Anosmia/Age of onset of androgen signs(pubic/axillary hairs) and estrogen signs(breast development)/Hyperpigmentation Family History : Timing of growth and pubertal development in parents /siblings.

12. Physical examination Height/Weight/blood pressure Sign of chronic disease Temperature Dental age Pubic/Axillary hair adult body odour Skin and hair Breast development Penis size Neurological status Intellectual ability Dysmorphic features

13. APPROACH TO PUBERTAL DISORDERS

14. PRECOCIOUS PUBERTY Pubertal onset before the age of 8 years in female and 9 years in male is suggestive of puberty Stimulus of Hypothalamo-pituitary axis(Gonadotropin dependent) Autonomous sex hormone production (Gonadotropin independent)

15. PRECOCIOUS PUBERTY IN BOYS Gonadotropin dependent or Central precocious puberty Gonadotropin independent or peripheral precocious puberty Idiopathic Congenial adrenal hyperplasia : 21 - hydroxylase deficiency, 11 β- hydroxylase deficiency CNS tumors : Hamartoma,craniopharyngioma,glioma Adrenal tumors : Adenoma, carcinoma Infections :Tubercular meningitis Testicular tumor : Seminoma ,germinoma Injury : Head trauma,surgery, radiation testotoxicosis : Activation of LH receptor Malformation : Arachnoid cyst ,hydrocephalus hCG secreting tumor : Germinoma, hepatoblastoma Exogenous androgen exposure : testosterone cream

16. PRECOCIOUS PUBERTY IN GIRLS Gonadotropin dependent or Central precocious puberty Gonadotropin independent or peripheral precocious puberty Idiopathic Hypothyroidism CNS tumors : Hamartoma,craniopharyngioma,glioma, pituitary adenoma Ovarian estrogen: MacCune-Albright syndrome, cyst,tumor, aromatase excess Infections :Tubercular meningitis , Neiurotuberculosis Adrenal estrogen :Estrogenic adrenal adenoma Injury : Head trauma,surgery, radiation Exogenous estrogen exposure : testosterone cream Malformation : Arachnoid cyst ,hydrocephalus, Septo-optic dysplasia Incomplete variants : Isolated thelarche Isolated pubarche(adrenarche) Isolated menarche

17. Gonadotropin dependent/True/Central PP Most common 90% case are idiopathic Etiology Hypothalamic hamartoma Neuronal migration defect Early onset and rapid progression of pubert ,seizure and uncontrolled laughter episodes (Gelastic epilepsy)

18. Gonadotropin independent (Peripheral )PP Rare Usually caused by estrogenic ovarian cyst Fluctuating pubertal development and early vaginal bleeding due to hyprestrogenic state the condition is usually self resolving and requires no treatment

19. Recurrent ovarian cyst raises the possibility of Mac-Cune-Albright syndrome Mutation of stimulatory co-protein causes: 1. Constellation (multiple)of cutaneous Cafe-aulait spots 2.skeletal abnormalities(Multiple fibrous dysplasia) 3.Endocrine abnormalities( Hyperthyroidism,GH excess, Rickets)

20. Prolonged untreated Hypothyroidism Prolonged untreated hypothyroidism leads to induced early puberty due to action of TSH on FSH receptor. Delayed bone age and delayed growth are characteristics.