Case Scenarios – Paediatric Endocrine Disorders

Dr Yau Ho Chung
Department of Paediatrics, Prince of Wales Hospital, Chinese University of Hong Kong
hcyau@cuhk.edu.hk

Case scenario 1
A 6-year-old previously healthy girl presented with 3-day history of abdominal pain, nausea
and vomiting. Her initial assessment revealed tachypnoea, tachycardia and moderate
dehydration with estimated fluid deficit of 10%. EmDDx: sepsis, pneumococcol septiemia
Case 1.2: Further reveal 2wk polydipsia, 2' noct enuresis, 5kg weight loss
DDx: DI, DM, HyperK
Case scenario 2 Look for DKA (3 biochemical criteria)(3 severity)(feature)(Tx - hydration, acidosis, hyperG...)

An 18-month-old girl presented with breast development for 2 weeks. Physical

examination was unremarkable. To Dx prec puberty: persistent Ex -> also ofther 2" sexual characteristic
Isolated telerache as in this case: transient rise of unknown origin

Case scenario 3
An 8-year-old girl presented with breast development since 6 years of age. It was
associated with accelerated growth and vaginal bleed. She had a past history of brain
tumor at 2 years of age. Dx Prec puberty being central or peripheral (test used acc to stage of puberty)
initial/Pre-Tx: LHRH stim test
Middle/Post-Tx test: GnRHa TEst
Case scenario 4
A 3-year-old boy presented with accelerated growth. Mother noted he is more irritable
case 4.2: Noted pubic hair & enlarged penis
and moody than before. Dx: Prec puberty

Case scenario 5
A 15-day-old baby presented with poor feeding, vomiting and lethargy. On clinical
examination, he was afebrile. His capillary refill was 3 seconds. Heart rate was 180/min
PE: Dehydrated, hyperpigment, enlarge penis
and mean blood pressure was 53mmHg. ECG: wide QRS, tented T (hypoNA/HyperK)
Dx: Salt-losing CAH (DDx: sepsis, renal failure)
Tx: Stress dose hdrocortisone
Case scenario 6 Avoid term for male/female, use neutral term b4 Ix
A newborn baby presented with ambiguous genitalia. Eg. labioscrotal fold instead of enalrged majora/small scrotum
Eg. penis/clitoris???
PE: Hyperpigment, Single opening, no palpable gonad
Case scenario 7 Ix: Karyotyping, 17-hydroxyprog, pelvic USG
Virilzing form CAH if female, high 17-HP, wf mullerian struc/ovary
A 15-year-old girl presented with delayed puberty. She has no menstruation at all. She
was seen by a general practitioner and referred to paediatric clinic for ‘ambiguous genitalia’.
PE: Excessive acne, No breast dvlm, clitoromegaly
Case scenario 8 Non-classic CAH

A 14-year-old previously healthy girl presented with palpitation and anterior neck swelling
for 3 months. Dx goiter & thyorid nodule first!

5-7: 3 forms of CAH, mostly due to 21-hyxxx deficiency