1. A boy with tall stature and delayed puberty
Professor of Pediatric Endocrinology
Isfahan University Of Medical Sciences
M. Hashemipour

2. Case: An 18 year old boy was referred because of delayed puberty .
Reduced facial and body hair .

3. What do you ask him?

4. Social and family history
Student
Non-smoker
His older brother had spontaneous puberty at the age of 13 years
His mother’s menarche occurred at the age of 15 years
He was born after an uncomplicated delivery
He has always been healthy
At present , he is in his last year of high school

5. Sense of smell
Unremarkable past medical history

6. What's important in Physical examination?

7. . His target height (TH) is 178cm
He has not experienced a pubertal growth spurt
His height velocity has continued in a prepubertal pattern

8. Arm span - Height =7cm

9. Physical examination physical examination reveals
No pubertal genital development
Testicular volume is 2ml on each side
Moderately pubichair &axillary hair

10. Physical Examination What physical features
suggest a pubertal disorder ?

11. Eunuchoid
Long legs
Lack of pubertal development
Gynecomastia

12. Investigations
What additional growth related information would you need before making a diagnosis?

13. Bone age
Serum testosterone level
Upper to lower segment

14. Upper to lower segment =0.8
BA=15 Y
Tes= 0.6ng/ml
Upper to lower segment =0.8

15. Problem Definition
How would you diagnose his pubertal complaint?

16. He is normal and will develop normally
He has constitutional delay of growth and puberty
He has delayed puberty
He has hypogonadotropin hypogonatism

17. Pituitary failure

18. Medical history
What further information from his medical history would be relevant in dealing with his complaint?

19. surgery or medical treatment for undescended testes
Member of his family has experienced fertility problems
Normal sense of smell
Headaches
visual disturbances
psychosocial situation

20. His mother recalls that at birth His testes were undescended
Medical history
His mother recalls that at birth
His testes were undescended .
After 2years, his testes had not descended spontaneously, and needed orchiopexy

21. bear child Investigation
His family history revealed that one of his maternal aunts was not able to
bear child

22. What's your plan?

23. cdpuberty kallman
kallmann
Pituitary failure

24. Measure Gonadotropin

25. Investigation To exclude : Hypergonadotropic hypogonadism
Why would you collect basal levels of LH and FSH?
To exclude :
Hypergonadotropic hypogonadism
Hypogonadotropic hypogonadism
To make a distinction between HH & CDGP

26. levels of LH and FSH are low

27. Advanced Investigations
It is sometimes difficult to make a distinction between delayed puberty and hypogonadotropic hypogonadism.
GnRH test may be helpful

28. Investigation GnRH tests are performed:
60min
30min
0min
0.1
Testosterone (nmol.L)
1.6
1.8
<1
LH(U/L
1.2
1.9 1
FSH(U/L)
How would you interpret these results?

29. The rise in Gonadotropin in response to GnRH is minimal
Investigation
In hypothalamic dysfunction
The rise in Gonadotropin in response to GnRH is minimal

30. Differential Diagnoses
He likely has HH
BA=14.5 years:
indicates that he has a pubertal disorder.

31. What differential diagnoses would you make ?

32. Impaired GnRH secretion (kallmann syndrome )
Constitutional delay of G&P
Isolated gonadotropin deficiency
Chronic disease

33. Investigations
What additional test would be useful in making a diagnosis?

34. An olfactometric (smell) test
An MRI or CT of hypothalamic/ pituitary region
family history

35. What is your opinion about induction of his puberty?

36. For psychosocial reasons , induction of puberty is indicated
Further delay of pubertal development would compromise normal development of bone mass.

37. Therapy
He asks you what his options are with respect to pubertal induction and fertility

38. Therapy Long –term treatment for fertility
If he has intact LH&FSH producing pituitary cells
Long –term treatment for fertility
HCG and HMG
Biosynthetic LH /FSH preparation
pulsatile GnRH
Could be used to induce gonadal development and spermatogenesis .

39. Therapy He was treated with testosterone
He was pleased with his pubertal development.
He reached a final height of 199 cm at the age of 21 years