2. M. Hashemipour Pediatric Endocrinologist Endocrine and metabolic research center, Isfahan university of medical sciences

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

4. What do you ask her ?

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

6. What's important in Physical examination?

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

8. Ht=130cm WT=40kg

9. Physical examination? Low set Ears LOW Hairline A high arched palate Hypoplastic or hyperconvex nails Excessive numbers of nevi Cubitus valgus (increased carrying angle) Serous otitis mediaotitis media

10. Crohn disease and ulcerative colitisCrohn diseaseulcerative colitis Scoliosis

12. What laboratory tests will you request?

13. first BA

14. BA=14y

15. Second Blood hormone levels(FSH,LH)

16. They are high

17. Third Genetic study

18. 45XO

19. Fourth  Creatinine, blood urea nitrogen,  LFT  TFT  Lipid profile  FBS  Hemoglobin A1c

20. Fifth Echocardiogram Karyotyping Ultrasound of reproductive organs and kidneys

21. Discussion

22. Investigation History Auxological data Pubertal development examination

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

24. Turners syndrome XO

25. 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

26. Additional Health Problems * Heart Problems. * Kidney problems.

27. Symptoms

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

30. 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

31. 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

32. 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

33. 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

34. Health problems in Turner syndrome Hypercholesterolemia 30% Hypertriglyceridemia. 32.5% LDL-C>95th 15% HDL-C <5 th 7.5%. No case of abnormal blood glucose was found Journal of Research in Medical Sciences 2007; Vol 12, No 2

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

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

37. 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

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

39. Treatment  Conjugated estrogen 0.15 mg/d or 0.3 mg on alternate day  Ethinylestradiol 0.05 – 0.1 ug/kg/d, 2.5 – 5 ug/d  Adult woman: conjugated E 0.6 – 1.25 mg ethinylestradiol 10 -20 ug

40.  When spotting occurs or 6 months of treatment with 0.6 mg conjugated E or 10 ug ethinylestradiol  cyclic progesterone should be added 5 – 10 mg 12 – 14 days every month