A 14-year-old boy with short stature

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Grand round presentation on 17th November, 2013 in BSMMU by Dr. A B M Kamrul Hasan

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A 14-YEAR-OLD BOY WITH SHORT STATURE

PRESENTED BY:

DR. A.B.M. KAMRUL HASAN

MD FINAL PART (EM)

DEPARTMENT OF ENDOCRINOLOGY

BSMMU

CASE SUMMARY

Md. SS, 14 years, Student, from B, got admitted in the department of Endocrinology of BSMMU on 19.10.2013 with the complaints of

Stunted growth since childhood and Failure to develop secondary sexual

characteristics.

CASE SUMMARY CONTINUED

Was alright till 2 years of age with normal developmental milestone

Failed to develop properly thereafter Has not developed any secondary sexual

characteristics No change of his clothing and shoe size

for last 9 years

CASE SUMMARY CONTINUED

No history of learning difficulty or mental retardation; anosmia or hyposmia; features suggestive of any chronic systemic illness

Suffered from diarrhea starting at his 1 month of age which persisted for about 1.5 year

CASE SUMMARY CONTINUED

Birth history was uneventful

His parents and elder sister had normal pubertal onset. His 2 sisters are of good health

No history of psychosocial disturbance

CASE SUMMARY CONTINUED

On examination, his body built is below average, height 106 cm (41.7 inches), weight 15 kg, arm span 106 cm, upper segment to lower segment ratio 0.96

Vital signs normal

No signs of malnutrition

CASE SUMMARY CONTINUED

Tanner stage G1genitalia, testicular volume 2 ml for both testes, small sized scrotum with no change of scrotal skin, Stretched Penile Length (SPL) 3.5 cm and Tanner stage P1 Pubic hair

His IQ appears to be normal

Other systems revealed no abnormality

OK135S067

Mid-parental height

Father’s height: 156 cm (61.5 inches ) Mother’s height: 146 cm (57.5 inches ) Mid-parental height: 62 inches

DIFFERENTIAL DIAGNOSIS

Short Stature with Delayed Puberty

Due to - 1. Constitutional Delay of Growth &

Puberty (CDGP) 2. Panhypopituitarism

INVESTIGATIONS

Name of the investigation

Date Result Normal values

CBC 11.11.2013

Hb: 11.7 g/dLESR: 28 mm in 1st hrTC of WBC: 5.5X109 /LDC of WBC: N 46%, L 43%, M 07%, E 04%, B 00%

Hb: 13-17 g/dLESR: 0-10 mm in 1st hrTC of WBC: 4-11X109 /LDC of WBC: N 40-70%, L 20-40%, M 2-8%, E 1-7%, B 0-2%

Urine RE 11.11.2013

Normal

Fasting plasma glucose

23.10.2013

4.0 mmol/L <6.1 mmol/L

Plasma glucose 2 hours after breakfast

23.10.2013

5.0 mmol/L <7.8 mmol/L

INVESTIGATIONS (CONTD...)

Name of the investigation

Date Result Normal values

Serum Creatinine

23.10.2013

0.5 mg/dL 0.6 - 1.3 mg/dL

Serum SGPT 23.10.2013

42 U/L 30 – 65 U/L

Serum Calcium 23.10.2013

8.5 mg/dL 9.0 – 11.0 mg/dL

13.11.2013

9.1 mg/dL 9.0 – 11.0 mg/dL

Serum ALP 30.10.2013

209 U/L 50 – 136 U/L

Serum Albumin 30.10.2013

41 gm/L 35 – 50 gm/L

Serum Inorganic Phosphate

30.10.2013

0.14 ng/ml 0.05 – 5.0 ng/ml

INVESTIGATIONS (CONTD...)

Name of the investigation

Date Result Normal values

Serum TSH 23.10.2013

4.83 mIU/L 0.47 – 5.01 mIU/L

Serum FT4 23.10.2013

13.43 pmol/L

9.14 – 23.81 pmol/L

Serum FSH 23.10.2013

2.38 IU/L Boys 14-17 years:0.4- 7.4 IU/L

Serum Testosterone (Total)

23.10.2013

0.91 ng/ml Male:Prepubertal (Late): 0.1 – 0.2 ng/mlAdult: 3 – 10 ng/ml

INVESTIGATIONS (CONTD...)

Name of the investigation

Date Result Normal values

Serum Growth Hormone (Basal)

23.10.2013 0.14 ng/ml 0.06 – 5.0 ng/ml

Serum Growth Hormone (Post Exercise)

02.11.2013 0.14 ng/ml

Serum Cortisol (Basal)

14.11.2013 268 nmol/L 138 – 690 nmol/L

Serum Prolactin 14.11.2013 6.26 ng/ml Adult male: 2.5 – 17 ng/ml

INVESTIGATIONS (CONTD...)

Name of the investigation

Date Result

X-ray Skull both view 23.10.2013

Normal Findings

X-ray Left Hand for Bony Age

23.10.2013

Bony age consistent with 8 – 9 years

MRI of Pituitary and Hypothalamus

10.11.2013

Partial empty sella with relatively smaller pituitary gland

MRI of Pituitary and Hypothalamus

FINAL DIAGNOSIS

Short Stature with Delayed Puberty due to Partial Empty Sella Syndrome

PROBLEM LIST

Cause of Empty Sella Further plan of management

ACKNOWLEDGEMENT

Prof. Md. Fariduddin Chairman & Course Co-ordinator,

Department of Endocrinology, BSMMU Dr. M.A. Hasanat Associate Prof,

Department of Endocrinology, BSMMU All the colleagues of my

department

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