A short & obese - girl
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- Gavin Henderson
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1 A short & obese - girl Presented by :Dr.Amit P Ghawade (DNB Resident-1st Year ) Guide :Dr.S.Ramkumar MD(pediatrics) ICH & HC, Chennai, DM(endocrinology) AIIMS, Delhi Department of Pediatric Endocrinology Apollo Children s Hospitals
2 Case scenario 14 yr girl, 3rd born to nonconsanguinous marriage c/o Excess weight gain Poor height gain since 8 years of age
3 History(cont..) Weight gain - progressive She was 3.3 kg at birth,50kg at 8 yrs,80 kg at 10yrs. She was shorter than her siblings
4 History(cont..) No neck swelling, constipation, poor academics, dry skin Difficulty in getting up + No skin striae, bruises, osmotic symptoms No h/o chronic diarrhea, chronic fever No h/o polyuria,polydypsia No h/o headache, nausea, vomitting, diplopia, seizures Not attained cycles No DM/HTN Not on any treatment allopathic/herbal
5 History(cont..) Past history: not recieved any medications before and referred to Pediatric Endocrine Dept, Apollo Children Hospital ANC history: Normal Birth history:ftnvd, Birth wt 3.3kg, Neonatal history: Uneventful, passed meconium in 24hrs of life changed colour to yellow around 5 th day of life No h/o nicu admissions, No h/o neonatal jaundice Development Normal
6 Anthropometry WEIGHT:105 kg >95 th centile HEIGHT :133.5 cm <5th centile BMI :58.91 Kg/m2 US/LS=0.907 proportionate Arm span height= 1.5 cm Mid parental height 161cm (50-75th centiles)
7 DD for obesity + short stature Endocrine causes: Hypothyroidism, Cushing s syndrome, Growth Hormone deficiency, Pseudohypoparathyroidism Hypothalamic tumors(frohlich syndrome) Syndromic short stature (Prader willi syndrome, etc)
8 Examination: Generalised Obesity No pallor/icterus /cyanosis/clubbing/pedal oedema/lymphadenopathy HR 82/min B.P 130/90 mm Hg (95centile)
9 Head to foot examination Generalised obesity No dysmorphic features, midline anomalies No acromicria(pws) Acanthosis nigricans + No chovostek sign, trousseau sign, no short 4th metacarpals No goitre, bradycardia, No EOM palsy/squint Systemic examination normal except proximal myopathy
10 Striae Striae noticed over armpits waist and thighs, linear, whitish, dehiscent(abdomen) Roundening of facies +, Supraclavicular fullness, Increased dorsocervical fat pad +, No ecchymosis, skin thinning
11 Investigation Her hemogram, LFT, RFT and TFT were normal Fasting glucose mg% HbA1c -11% Lipids: TC -298, LDL-257, HDL-52, TGL-168 mg% X ray left hand with wrist(bone Age): TW method: 13yrs, 5months Calcium: 8.8 mg% Phosphate: 3.5 Free T4: 1.4 ( ) TSH:1.6 Cortisol 8 am: 19.4 mcg/dl (5-25) Insulin Like Growth Factor 1: 251 ng/ml ( )
12 Investigation(cont..) Body fat percentage 63% (Normal < 25%)
13 DD for obesity + short stature + diabetes Endocrine causes: Hypothyroidism, Cushing s syndrome, Pseudohypoparathyroidism, Growth Hormone deficiency Hypothalamic Tumors Syndromic short stature (Prader willi syndrome) Diabetes Mellitus seen in Cushing s syndrome and Prader Willi Syndrome PWS unlikely as no acromicria + Cushing s likely as obesity, short stature & diabetes
14 What is Cushing Syndrome? Excess cortisol causing 1. Protein breakdown 2. Fat accumulation Protein breakdown Muscle myopathy Skin striae, thinning, ecchymosis Bones osteoporosis Fat accumulation Visceral adiposity Face, cervical, above clavicle Metabolic Syndrome: DM, HTN, Dyslipidemia,etc
15 Classification of CS
16 Cushing Syndrome in young In one study involving 398 Cushing s in young
17 Work-up for Cushing s syndrome 2 out of 4 is diagnostic for Cushing s syndrome 1. Overnight Dexamethasone suppression test: 11pm dexona given, followed by 8 am cortisol(< 1.8 mcg/dl) 2. Elevated Salivary cortisol 3. Elevated 24 hours urinary cortisol 4. Low Dose Dexamethasone suppression test: 8 doses of dexona given followed by 8am cortisol (<1.8 mcg/dl) Baseline cortisol has no meaning in the work-up of endogenous cushing s syndrome.
18 Work-up for Cushing s syndrome Cortisol: 8am 21.6 mcg/dl; 11pm 20.0 mcg/dl (- loss of diurnal rhythm) 24 hour urinary cortisol 516 mcg/24hours(20-70) 7 times elevated above normal ONDST: 27.2 mcg/dl(< 1.8) LDDST: 32.9 mcg/dl (< 1.8) Next Step: Plasma ACTH
19 Plasma ACTH 1.6, 2.0 pg/ml (10-65) High ACTH dependent CS Low ACTH independent CS Pituitary Adenoma Ectopic ACTH secreting Cushing syndrome Adrenal Investigation: MRI sella Investigation: CT abdomen Hyperplasia Adenoma Carcinoma
20 Investigation - imaging CT adrenals: showed bilateral nodular hyperplasia right side 3 nodules largest measuring 7 x 9mm and left 3 nodules 2-3 mm
21 Interpretation In view of young age, bilateral nodular involvement and paradoxical increased response to dexamethasone, the diagnosis of PPNAD is made (primary pigmented nodular adrenocortical disease)
22 What is PPNAD? Primary Pigmented Nodular Adrenal Hyperplasia 100 cases reported Bilateral small pigmented adrenal nodules (2 4mm) Adjacent adrenal is atrophic Black or brown pigments 50% are younger than 15 yrs Treatment: Laparascopic bilateral adrenalectomy is curative
23 Course After discussing with parents and the referral team, Bilateral adrenalectomy was planned. Explained about long term dependency on steroids Child underwent laparascopic bilateral adrenalectomy and shifted to PICU for observation
24 Gross specimen
25 Biopsy
26 Microscopy presence of pigments
27 Is this Carney? PPNAD is part of Careny complex in 45% cases Clinically no goitre, breast lumps Skin: no pigmented nevi, lentigenes ECHO: Normal IGF-1: normal Not Carney s syndrome
28 Course After Bilateral adrenlaectomy, Tapered steroids to maintenance dose of Tab. Hisone + Tab. Florinef
29 Take home message Normal Cortisol does not exclude Cushing s syndrome Short stature and Obesity Exclude Endocrine, Syndromic(Prader Willi syn) & Hypothalamic tumors ACTH is a must in localisation of Cushing s syndrome Consider PPNAD in ACTH independent Cushing s syndrome in children if small nodules seen in CT
30 Acknowledgements Dr. Rochita, Radiologist, Apollo Heart Centre Dr. Sheba S Jacob, Pathologist, AMH Dr. Jimmy Shad, Pediatric Urologist Department of Biochemistry PICU team Anaesthesia team International Patient Services
31
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