MEDICAL RECORD NUMBER
[Number]
[Name] is an almost 25-year-old girl who has a diagnosis of congenital adrenal hyperplasia, which is definitely a very severe form. I first met her in 1995, when I was working at [Place] and doing an outreach clinic in [Place]. She was diagnosed with a disorder in the newborn period and did undergo genital surgery, with removal of her clitoris and establishment of a normal external female genitalia. She has been highly noncompliant in taking her medications and has missed them for days on end, she then becomes very ill because, of course, she does have adrenal insufficiency. She has also had problems with severe acne, and hirsutism, and very severe darkening of her skin due to the high levels of ACTH that she has produced. She currently does not have health insurance, but is followed at the [Place].
She is here with her …show more content…
She has Tanner V breast development.
Abdomen: No mass, or organomegaly.
The external genitalia reveal that she has had corrective surgery. There has been a clitoral amputation. She has, what appears to be, a normal vaginally opening, and normal urethral opening. An internal pelvic is not done.
Gait and station, fingers and toes are fine.
Right and left, upper and lower extremities are normal.
She does have some tenderness when I press deep into the left lower quadrant, but I cannot feel a mass.
She has very significant darkening of her skin, once again, due to the adrenal insufficiency.
Her reflexes and sensation are normal.
She was alert and oriented, and quite able to express how she feels and I respect her for this.
IMPRESSION
1. Congenital adrenal hyperplasia, which is very poorly controlled. We will reestablish her medications and recheck blood levels. She was urged to continue this medication.
2. Abnormality of a sexual differentiation, with a sex assignment preferred by the patient as male. Her father will accept this, and allow her to function in this
[Number]
[Name] is an almost 25-year-old girl who has a diagnosis of congenital adrenal hyperplasia, which is definitely a very severe form. I first met her in 1995, when I was working at [Place] and doing an outreach clinic in [Place]. She was diagnosed with a disorder in the newborn period and did undergo genital surgery, with removal of her clitoris and establishment of a normal external female genitalia. She has been highly noncompliant in taking her medications and has missed them for days on end, she then becomes very ill because, of course, she does have adrenal insufficiency. She has also had problems with severe acne, and hirsutism, and very severe darkening of her skin due to the high levels of ACTH that she has produced. She currently does not have health insurance, but is followed at the [Place].
She is here with her …show more content…
She has Tanner V breast development.
Abdomen: No mass, or organomegaly.
The external genitalia reveal that she has had corrective surgery. There has been a clitoral amputation. She has, what appears to be, a normal vaginally opening, and normal urethral opening. An internal pelvic is not done.
Gait and station, fingers and toes are fine.
Right and left, upper and lower extremities are normal.
She does have some tenderness when I press deep into the left lower quadrant, but I cannot feel a mass.
She has very significant darkening of her skin, once again, due to the adrenal insufficiency.
Her reflexes and sensation are normal.
She was alert and oriented, and quite able to express how she feels and I respect her for this.
IMPRESSION
1. Congenital adrenal hyperplasia, which is very poorly controlled. We will reestablish her medications and recheck blood levels. She was urged to continue this medication.
2. Abnormality of a sexual differentiation, with a sex assignment preferred by the patient as male. Her father will accept this, and allow her to function in this