Aim: Pituitary hypoplasia, empty sella syndrome, and ectopic neurohypophysis are common causes of pituitary MRI of the patient with congenital hypopituitarism. We aimed to search clinical and radiological examination of the patient with congenital hypopituitarism.
Method: We evaluated age, diagnosis, laboratory evaluation, hormone deficiencies, accompanying diseases, and MR images of the patients with multiple pituitary hormone deficiency.
Results: Of the 50 cases, 54% (n=27) were female with mean age of 6.43±5.15 years, and 7.09±5.21 years for admission and diagnosis, respectively (P<0.05). The reasons for referral were as follows; short stature (n=36), jaundice and/or cholestasis (n=5), hypoglycemia (n=4), thyroid test abnormalities (n=4), menstrual problems (n=3), polyuria/enuresis (n=2), cyanosis (n=2), micropenis (n=1), constipation (n=1) and weight gain (n=1). The height, weight and BMI SDS were −3.18, −1.93 and −0.03, respectively. Hormonal evaluation revealed growth hormone deficiency (peak growth hormone response 0.84 ng/ml) in 48 cases, hypothyroidism (fT4 0.59 ng/dl, TSH 2.78 mIU/ml) in 40 cases, adrenal insufficiency (cortisol 2.8 mcg / dl, 14.2 pg / ml), sex hormone deficiency (LH 0.98 mIU / ml, E2 16.5 pg/ml, t. testosterone 0.86 ng/ml) in 25 cases. More than half of the cases with growth hormone deficiencies had very low IGF levels (<25 ng/ml). The third or fourth hormone deficiency appeared later in the 17 cases (34%). MR imaging showed pituitary stalk interruption syndrome (PSIS) (54%) in 27 cases, anterior pituitary hypoplasia in nine cases (18%), partial empty sella in six cases (6%), and normal pituitary defect in 11 cases (22%). When the patients were divided into two groups as having PSIS and not, the prolactin level was significantly higher (44.97 vs 11.9 ng/ml, P<0.005) and the st4 level was significantly lower (0.58 versus 0.60 ng/dl, P=0.019) in the PSIS group.
Conclusion: The striking feature of the study was diagnosing PSIS more than expected with a significantly higher prolactin level. Increased prolactin may help to diagnose for PSIS. The PSIS that genetic cause is still unclear must be kept in mind in the patient with hypopituitarism. Therefore, presence of stalk should be evaluated carefully in cranial imaging especially if there is an apparent ectopic neurohypophysis.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology