Ketotic hypo diag next step

[MGSMOM]

13 year old daughter diagnosed w/ketotic hypogylcemia at age 2. in NICU at birth for LBS. Excessive body hair, body odor at age 7, large eyes/poor eyesight, hypotonia. Very slim girl, recently noticed weight around her trunk. Overall health is fine, but low energy level, coordination and variable mental ability still concern me. should we try new tests? Feel like we are missing something? Thank you.

[Deanna L Aftab Guy, MD]

This is premature adrenarche, the early production of the male hormones from the adrenal glands-that girls and boys both make, when they are produced early or in excess it is important to rule out abnormal reasons. One important cause that is rare and often screened for at birth is congenital adrenal hyperplasia, this is a block in the enzymes that the adrenal glands make and there is a build up of the male hormones that then cause the hair to become coarse and curly in the pubic and axillary area and cute baby sweat to change to  body odor. There is a nonclassical kind that may not show till later after birth due to an incomplete block, this needs to be ruled out, if all is well and there is just an early blip of these normally occuring hormones then they can monitor her closely to be sure that things do not advance to stimulate the pituitary to trigger the female hormones associated with early puberty as we know it.
Also as you described are the newborns born small or early and have adrenal glands that have been majorly stressed and they also become very primed and tend to "go off" earlier than other kids like 6 or 7. These same kids are insulin resistant per se as a protective mechanism during newborn time, this insulin resistance sets them up for premature adrenarche and alter polycystic ovarian syndrome.
So at 13 I would focus firstly on her overall health needs, are her menses started and if so are they regular or is she having excessive male hair rather than body hair (face, belly, chest area) and acne etc. These kids tend to do well with certain medications and a peds endo is helpful in this area, if not then she needs no further testing!
Ketotic hypoglycemia is a diagnosis once all has been ruled out, tends to be small toddlers with very little reserve who can get low sugars in the face of prolonged fasting and times of illness when not eating or drinking well, they outgrow things for the most part since their body gets smart at storing fat and mobilizing fuel when needed-plus I honestly think they now can feed themselves when they are needing it!
So hope this helps