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Girls with Delayed Puberty

Girls with Delayed Puberty. M. Hashemipour Pediatric Endocrinologist Endocrine and metabolic research center, Isfahan university of medical sciences. Medical history. A 15 yr old girl came due to delay in appearance of secondary sexual characteristics. Genital completely female

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Girls with Delayed Puberty

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  1. Girls with Delayed Puberty M. Hashemipour Pediatric Endocrinologist Endocrine and metabolic research center, Isfahan university of medical sciences

  2. Medical history • A 15 yr old girl came due to delay in appearance of secondary sexual characteristics. • Genital completely female • Shortest in her class

  3. What do you ask her ?

  4. The age of onset Puberty in her parents&Sib • Menarchal age in her mother • past medical history

  5. What's important in Physical • examination?

  6. Ht & WT • Hands and feet • Neck • Pubertal stage • Chest • Skin • Eyelids • BP • Abdominal examination

  7. Ht=130cm • WT=40kg

  8. Physical examination? • Low set Ears • LOW Hairline • A high arched palate • Hypoplasticor hyperconvex nails • Excessive numbers of nevi • Cubitusvalgus (increased carrying angle) • Serous otitis media

  9. Crohn disease and ulcerative colitis • Scoliosis

  10. What laboratory tests will you request?

  11. first • BA

  12. BA=14y

  13. Second • Blood hormone levels(FSH,LH)

  14. They are high

  15. Third Genetic study

  16. 45XO

  17. Fourth • Creatinine, blood urea nitrogen, • LFT • TFT • Lipid profile • FBS • Hemoglobin A1c

  18. Fifth • Echocardiogram • Karyotyping • Ultrasound of reproductive organs and kidneys

  19. Discussion

  20. Investigation • History • Auxological data • Pubertal development examination

  21. Mode of Inheritance • 1 out of every 2,500 female births has Turner Syndrome. • 45Xo

  22. Turners syndrome XO

  23. Symptoms • Swollen hands and feet • Wide and webbed neck • Absent or incomplete development at puberty, including sparse pubic hair and small breasts • Broad, flat chest shaped like a shield • Drooping eyelids • Short height • Vaginal dryness • Low-set ears. • Low hairline at back of neck

  24. Additional Health Problems • * Heart Problems. * Kidney problems.

  25. Symptoms

  26. Height in Adolescence • Growth failure becomes obvious in adolescence, due to the absence of a pubertal growth spurt

  27. Final Height in TS is affected by • parental Height • Ethnicity untreated adults with TS are approximately 20cm shorter than expected from mid-parental target height The mean final height is 142.9 cm

  28. Health problems in Turner syndrome Normal US 85% Dilatation of the Urinary collecting system 10 % • Duplication of the urinary collecting system5% • Hypothyroid 25% • Hashimoto thyroiditis • Journal of Research in Medical Sciences 2007; Vol 12, No 2

  29. Health problems in Turner syndrome • CS H 27.5% • Sensorineural hearing loss 32.5% • Normal hearing 37.5% • Otitis media 40% • Journal of Research in Medical Sciences 2007; Vol 12, No 2

  30. Health problems in Turner syndrome • Cardiac abnormalities 62.5% • Multiple anomalies. 32% • Most common anomaly was mitral valve prolapse • HTN 20% • Repeated at 5 yr intervals to assess • Journal of Research in Medical Sciences 2007; Vol 12, No 2

  31. Health problems in Turner syndrome • Hypercholesterolemia 30% • Hypertriglyceridemia. 32.5% • LDL-C>95th 15% • HDL-C <5th7.5% • . No case of abnormal blood glucose was found • Journal of Research in Medical Sciences 2007; Vol 12, No 2

  32. Every 3-5 years • Celiac s disease • Audiogram • Cardiac evaluation • BMD

  33. Yearly evaluation • Height, weight, • BP • Creatinine, blood urea nitrogen, • LFT • TFT • Lipid profile • FBS • Hemoglobin A1c

  34. GH Treatment Should be initiated the height falls • which occurs between two and five years of age • FDA approved for use in TS in late 1996 • 0.375 mg/kg/wk

  35. Estrogen replacement therapy • started at age 12-15 years • After 6 months progestin can be added

  36. Treatment • Conjugated estrogen 0.15 mg/d or 0.3 mg on alternate day • Ethinylestradiol0.05 – 0.1 ug/kg/d, 2.5 – 5 ug/d • Adult woman: conjugated E 0.6 – 1.25 mg ethinylestradiol10 -20 ug

  37. When spotting occurs or 6 months of treatment with 0.6 mg conjugated E or 10 ugethinylestradiol • cyclic progesterone should be added 5 – 10 mg 12 – 14 days every month

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