1. Tall Stature with Arrested Puberty
M. Hashemipour
Professor of Pediatric Endocrinology
Isfahan University of Medical Sciences

2. Case 1 15.5 year-old boy Referred for gynaecomastia.
Tall stature, does not want to grow taller.

3. What do you ask him?

4. Case 1 Tall since early childhood, but more excessively at 12 years
Pubic hair started at age 12
sense of smell
School performance

5. Forgetful, Poor academic performance

6. Family history

7. The only child.
Mother: one miscarriage, healthy, height 145 cm
Father: type 2 diabetes, height 163 cm

8. What's important in Physical examination?

9. 145
163
What's important in Physical examination?

10. Auxology
Height cm;
Arm span 186cm
Weight 87.0 kg
BMI 27.2

11. voice did not change
Gynaecomastia noted at the age of 12 years old

12. Pubertal exam

13. Pubertal Staging Pubertal exam Eunuchoid body habitus Gynaecomastia
Testes 4/4 mls
Pubic hair TS 4
Eunuchoid body habitus
Gynaecomastia

14. Abdominal striae
BP 12/7

15. what's Eunuchoid body habitués

16. Arm span _ Height
The arm span is the distance between the tips of the middle fingers when the arms are raised to a horizontal position .

17. Arm span - Height 1 – 7 yr _ 3 8 – 12 yr 0 > 12 yr : Boys +1
Girls 17

18. Upper to lower segment Birth : 1.7 3 years: 1.33 5 years : 1.17
The upper segment to lower segment ratio
Birth : 1.7
3 years: 1.33
5 years : 1.17
10 years : 1.0

19. Upper to lower segment pre-puberty ratio ≥ 1 During puberty ≤1
Adult men o.92
Adult woman

20. Eunuchoid proportions
Lower segment 2-5cm >upper segment
Arm span – Height> + 5 cm

21. What's your investigation

22. Bone age
Bone age: 14 years at chronological age 15 years 6 months

23. Investigations LH: 35.6 mIU/ml (prepubertal <1.0)
FSH 51.8 mIU/ml (prepubertal <1.0)
Testosterone 4.5 nmol/L (pubertal )
FBS, lipid profile and liver enzymes: normal

24. Chromosomal Study
Chromosomal study 47 XXY Father: 46 XY Mother: 46 XX

25. what is the most likely diagnosis?

26. Diagnosis
Klinefelter syndrome with
Gynaecomastia
Obesity

27. Treatment
Testosterone 100mg 4-weekly, and to achieve 250mg 4-weekly by 6 months.
Obesity:
Weight reduction: healthy diet, behavioural changes, exercise
Gynaecomastia
Monitor for regression after starting testosterone and weight reduction
May need surgery if fails to regress

28. Discussions

29. Klinefelter Syndrome (1942)
Prevalence 1 in males
Increased incidence with advanced maternal age
Classical KS: 47 XXY (80-90%)
Variants:
46 XY/47 XXY mosaicism
48 XXXY; 48 XXYY
Phenotypic males with 46 XX, Y to X translocation

30. Klinefelter Syndrome Mutation causes:
Hyalinization and fibrosis of seminiferous tubules and aggregation of Leydig cells
Azoospermia
Variable testosterone deficiency
Elevated gonadotropin

31. Klinefelter Syndrome
Clinical features: diagnosis rarely made before puberty
Height: above average, disproportionately long legs
Small penile size
Low IQ
learning disabilities

32. Features of Klinefelter’s syndrome
Taller than average height
Reduced libido
Reduced facial and body hair
Gynaecomastia
Small testes
Fatigue
Depression
Osteoporosis
Fat accumulation (abdomen, hips)
Poor erections
Infertility
Handelsman DJ, Zajac JD. Med J Aust 2004; 180: 529–35.

33. Klinefelter Syndrome At risk of: Low bone mineral density Type 2 DM
Varicose veins, venous thrombosis, pulmonary embolism
Early tooth decay

34. Klinefelter Syndrome At risk of Infertility Breast carcinoma
Extra-gonadal germ cell mediastinal
Increased incidence of autoimmune disease: SLE, RA and Sjogren synd.

35. Klinefelter Syndrome Treatment: Androgen replacement
Surgery for severe gynaecomastia.