20y female presents with darkening of the lips for past several years.
She is a known case of PCOD, dx in 2015 and is on COC for the same duration.
2) She has never been able to go off COC as her periods become extremely irregular.
No h/o sudden LOC on standing up, tiredness or discolouration in the body.
No hx suggestive of acne, hirsutism, acanthosis nigricans, deepening of voice or any genital abnormalities.
3) Gen survey
Pt C/A/C
Pulse - 90/min
BP - 130/60, L arm, sitting
RR - 18/min
T° - afebrile
No pallor, cyanosis, clubbing, icterus,edema, LNpathy or JVP
Hair growth on top of lips, side burn area 3+ by FG score in each
Dark lips and mucosal hyperpigmentation +
4) I have provided similar clinical images from Google to protect patient privacy.
5) BMI - 25 kg/m2
No acanthosis nigricans.
Abdominal circumference and WHR not done (no tape in the OPD).
No investigational reports were available.
6) What should be my provisional dx here?
NC-CAH --> late onset 21-hydroxylase deficiency
If you refer to a rarer variety of CAH --> please mention the enzyme