Figure1 : Left ankle malformation
Laboratory investigation revealed severe hypokalemia of 1.5 mmol/l and
metabolic alkalosis (ph, 7.54 and HCO3, 36.2 mmol/l). She exhibited a
primary adrenal insufficiency as indicated by theextremely lowcortisol
level associated with moderately elevated ACTH. She also had high FSH
and LH value with low estrogen and testosterone, implying a
hypergonadotropic hypogonadism (Table 1). Pelvic MRI unveiled the
absence of uterus, ovaries and the presence of two inguinal lesions
resembling testicular structures. Her karyotype was 46, XY. Thus, we are
confronting an XY, DSD with adrenal insufficiency combined with
hypertension and hypokalemia. This association leads us to the diagnosis
of a defect in the steroidogenesis pathway. Aiming topinpoint the exact
level of the deficit, we conducted a series of hormonal measurements
which showed: high level of 11-desowycorticosterone (DOC), low levels of
17 hydroxy progesterone and androstenedione (table 1). Putting all
findings together, we can conclude that the patient had a complete form
of 17OHD.
The main differential diagnosis was the deficit in P 450 oxidoreductase
deficiency (PORD) since our patient had skeletal malformations. However,
the atypical deformities in her feet, the absence of craniostenosis, the
mid face hypoplasia and the radio humeral synostosis makes this latter
diagnosis unlikely. Similarly, the diminished level of the basal 17
hydroxy progesterone is inconsistent with this hypothesis.
Regarding her hypertension, we prescribed hydrocortisone (5 mg at 8:00
am, 5 mg at 12:00 am and 10 mg at 12:00 pm). Nonetheless, this latter
treatment was insufficient to obtain normal blood pressure (BP), thus we
added spironolactone, which also helps normalizes the kalemia of our
patient. The evolution was marked by steady elevated BP, and therefore
we added Amlodipine and then Moxonide to our therapeutic arsenal. As for
her hypokalemia, oral potassium supplementation along with
Spironolactone was needed in order to attain normokalemia. One month
after therapy, her blood pressure was120/80 mmHg and she had normal
potassium level of 4.6 mmol/l.
Table 1 : Hormonal analyses in our case