W.I.

4th April 2018

 Case
• A full term neonate with ambiguous genitalia.

• History
• Examination
• Diagnosis
• Management
• Counselling
 History
• Exact age • Recurrent infections
• Lethargy • Syncope
• Dehydration • Hypotension
• Vomitings • Weakness
• Seizures • Cramps
• SIDS • Anorexia
• Vomitings/Wt loss
 Past History

• Previous admission • How, where, when Dx

• Previous SIDS • Freq/Indications of
• Recurrent dehydration hosp.
• Any corrective surgery • Comp. (disease/Drugs)
• Medications(/m2) • Clinic visits
• Change in doses • Routine tests
• Degree of control • Sick day plans
 Birth/Family History
• Term/Preterm • Consanguinity
• Antenatal scans (sex dif) • Infertilily
• Any sampling done • Puberty Delay
• Steroid? • Hypospadia/Crytpo
• Counselling? • Effected sib
• Previous Sib death
• SIDS episode
 Social History
• Impact on family • Impact on individual
• Care Giver/med • Sib rivalry
• Finances • Social Support groups
• Employment
• Acceptance
• Gender assigned
• Social pressure
 Nutrition/Development
• Tolerating feeds • Growing well?
• Change of formula • Develop. status
 Examination
• General Look • Genitalia
• Alert/lethargic • Phallus size
• Skin  Hyperpigment • Scrotum pigm.
• Dysmor. Beckwith • Openings
• Hydration status • Hypospadia
• BP/Heart rate • Chordae
• Palpate testes
• Orchidometer
• Rectal exam
 Diagnosis
• Reflo • Renin
• Electrolytes • Urinary 17 ketosteroids
• Karyotype • Pregnantriol
• 17-OH Progesterone • Voiding cysto
• Testosterone • Ultrasound
• Cortisol • CYP 21 Mutation
• ACTH (Stimulation test)
 Treatment
• Steroid 15-20mg/m2 • Corrective surgery
• Increase during stress
• Precocious puberty
• Monitoring of steroid
• Fludrocortisone 0.1-0.3
• Nacl
 Counselling
• Introduce • Exp nature of defect
• Greet • Gender assignment?
• Ask Relation • Its outcomes
• Ask for other parent • Its consequences
• Ask education • Complications
• Ask previous know, how • Drug compliance
• Name the disease • Sick days
• Precocoius
• Thank