A Case of Absent Pituitary Infundibulum and Ectopic Neurohypophysis in a Heterotaxy Syndrome Patient

Posted By Adil Omer
A Case of Absent Pituitary Infundibulum and Ectopic Neurohypophysis in a Heterotaxy Syndrome Patient

A 4 year old male presented to the pediatric endocrinologist with global developmental delay and growth retardation. The patient’s prenatal and neonatal records were significant for a maternal history of uncontrolled diabetes mellitus, cesarean section delivery at 40 weeks gestation, and meconium stained amniotic fluid. Following delivery the patient developed respiratory distress syndrome. Extensive workup during the perinatal period revealed presence of heterotaxy syndrome with azygous continuation of the inferior vena cava, functional asplenia, ventricular septal defect, and intestinal malrotation requiring Ladd procedure. The patient’s height and weight were 1.83 and 1.47 standard deviations below the mean for age and gender, respectively. Laboratory analysis revealed multiple hormonal deficiencies demonstrated by the following results: insulin growth factor 1 binding protein 16 ng/ml (normal, 30-155 ng/ml), hypoglycemia with inappropriate cortisol response 1.2 ug/dl (normal, 6-21 ug/dl), and low free T4 0.57 ng/dl (normal, 0.9 – 1.9ng/dl) with inappropriate thyroid stimulating hormone response 2.26 uIU/ml (normal, 0.35 – 4.8 uIU/ml), the latter consistent with secondary/tertiary hypothyroidism. Additionally, there was an absence in testosterone surge at 2 to 3 month of age. The constellation of clinical and laboratory findings were highly indicative of a pituitary deficiency disorder. The next step in management was to obtain Magnetic Resonance Imaging (MRI) of the brain and pituitary gland. The T1-weighted MR images demonstrated a partially empty hypoplastic sella turcica, unidentifiable pituitary stalk, and hypoplastic anterior pituitary gland tissue along the floor of the sella. In addition, a 2 mm hyperintense round soft tissue nodule at the median eminence consistent was seen with ectopic posterior pituitary tissue. These findings were consistent with congenital hypopituitarism.

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