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