CAH

P/C……….recurrent vomiting,fever,failure to thrive,

HOPI…….

R/O causes of vomiting,, GERD,pyloric stenosis,IEM

Ask # of vomiting per day, relation of vomiting with feed, is the child hungry after vomiting, mass
abdomen, age of onset of vomiting (pyloric stenosis) technique of feeding, burping,is vomiting
more with liquid or semisolid(GERD) wt loss, fever, irritabity, excessive crying, jaundice,FTT(IEM)

Polyuria , FTT( RTA)

Neonatal….hypoglycemia,fits,dehydration,collapse,skin pigmentation,ambiguous genital

Older child….

1. male..precocious puberty…(21 a ,11Bhydroxylase)

2. Female…clitoromegaly,pubic hair,acne,deep voice,facial hair(11B hydroxylase,17
hydroxylase)
3. Hypertension…(11a,17b)
4. Lethargy,disorientation(cortisol lack)
5. Salt craving(aldosterone lack)
6. Anorexia,wt loss
7. Ambiguous genitalia
8. Skin pigmentation generalized
9. Increased pigmentation in axilla & genitalia
10. H/O jaundice, urinary problems abnormal odour…. R/O IEM

Past medical history

When,where,how… diagnosis made

If older child with CAH ask about deterioting school performance, ataxia,,,ALD

BIRTH HISTORY: mode of delivery, vigorous resuscitation at birth…NICU admission… adrenal

haemorrhage

INVESTIGATIONS….electrolytes,USG,karyotyping,hormonal studies, cystourethroscopy, urinary

testing.( for reducing substances)

TREATMENT…..iv rehydration,hydrocortisone,fludocortisone,compliance,change in dose during

stress and infection

# of admissions ? duration? Reason? Outcome?

Past surgical history…….Surgery for genitalia

F.up and monitoring……frequency,wt,ht,bone age,electrolytes

COMPLICATIONS

Adrenal crisis…vomiting,diarhoea,dehydration,fits,drowsiness,skin pigmentation

Psychosocial behaviour,,Treatment complication(steroid side effects)

FAMILY HISTORY….consanguinity,similar illness,sib death,antenatal screening,sib screening

Parents understanding of disease inheritance pattern ? prenatal diagnosis? steroid use during
pregnancy

Gender of rearing? Any surgery advised & at what age?

Stress dose knowledge Impact of disease

SOCIAL HISTORY:

Psychosocial growth of children Impact of disease on childs psychological state,,,Male or female

type play activities

Impact of disease on family

DIAGNOSIS

PRENATAL:

 hormonal level in amniotic fluid AF

 HLA typing of AF or CVS cells
 Molecular genetic testing of AF or CVS cells
 CYP21 gene mutation

NEONATAL:

 Neonatal screening method.

 ↑ 17OH progesterone
 Affected females have ↑↑ testosterone levels
 Both genders have ↑ androstenedione levels

CAUSES OF ADRENAL INSUFFICIENCY:

AUTOIMMUNE ADRENALITIS APS I, APS II, APS IV

INFECTIOUS SDRENALITIS TB, AIDs, fungal infections

Genetic causes CAH, ALD, TRIPPLE A syndrome, kearns sayre syndrome

Others B/L adrenal haemorrhage
B/L adrenalectomy
Adrenal infiltrates due to mets/lymphoma
Drugs…. Ketoconazole, mitotane (anticancer), etomidate (I/V
GA)