Presentation on theme: "M. Hashemipour Professor of Pediatric Endocrinology Isfahan University Of Medical Sciences A boy with tall stature and delayed puberty."— Presentation transcript:
M. Hashemipour Professor of Pediatric Endocrinology Isfahan University Of Medical Sciences A boy with tall stature and delayed puberty
Case: An 18 year old boy was referred because of delayed puberty. Reduced facial and body hair.
What do you ask him?
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
Sense of smell Unremarkable past medical history
What's important in Physical examination?
. His target height (TH) is 178cm He has not experienced a pubertal growth spurt His height velocity has continued in a prepubertal pattern
Arm span - Height =7cm
Physical examination physical examination reveals No pubertal genital development Testicular volume is 2ml on each side Moderately pubichair &axillary hair
Physical Examination What physical features suggest a pubertal disorder ?
Eunuchoid Long legs Lack of pubertal development Gynecomastia
Investigations What additional growth related information would you need before making a diagnosis?
A.Bone age B.Serum testosterone level C.Upper to lower segment
BA=15 Y Tes= 0.6ng/ml Upper to lower segment =0.8
Problem Definition How would you diagnose his pubertal complaint?
He is normal and will develop normally He has constitutional delay of growth and puberty He has delayed puberty He has hypogonadotropin hypogonatism
Medical history What further information from his medical history would be relevant in dealing with his complaint?
surgery or medical treatment for undescended testes Member of his family has experienced fertility problems Normal sense of smell Headaches visual disturbances psychosocial situation
Medical history His mother recalls that at birth His testes were undescended. After 2years, his testes had not descended spontaneously, and needed orchiopexy
Investigation His family history revealed that one of his maternal aunts was not able to bear child
What's your plan?
cdpuberty kallman kallmann Pituitary failure
Investigation Why would you collect basal levels of LH and FSH? To exclude : Hypergonadotropic hypogonadism Hypogonadotropic hypogonadism To make a distinction between HH & CDGP
levels of LH and FSH are low
Advanced Investigations It is sometimes difficult to make a distinction between delayed puberty and hypogonadotropic hypogonadism. GnRH test may be helpful
Investigation GnRH tests are performed: 60min30min0min 000.1Testosterone (nmol.L) <1LH(U/L FSH(U/L) How would you interpret these results?
Investigation In hypothalamic dysfunction The rise in Gonadotropin in response to GnRH is minimal
Differential Diagnoses He likely has HH BA=14.5 years: indicates that he has a pubertal disorder.
Investigations What additional test would be useful in making a diagnosis?
An olfactometric (smell) test An MRI or CT of hypothalamic/ pituitary region family history
What is your opinion about induction of his puberty ?
For psychosocial reasons, induction of puberty is indicated Further delay of pubertal development would compromise normal development of bone mass.
Therapy He asks you what his options are with respect to pubertal induction and fertility
Therapy 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.
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