ESPE Abstracts

The diagnosis of traumatic pituitary stalk interruption is often delayed. Late clinical manifestation can be life-threatening for the patient. We present a 17-year-old boy admitted to the Department of Pediatrics and Endocrinology due to delayed puberty. At 12 months old, he was hospitalized in the ICU after a severe head injury from a traffic accident, kept in a medically induced coma, and likely had transient diabetes insipidus. Following this, he had periodic neurological supervision but no MRI of the pituitary or hormonal tests and did not require further hospitalization. Upon admission, he showed no signs of puberty and had hypotension. Height SDS was [-1.16]. Recently, he had decreased physical performance and, two days before hospitalization, experienced a syncope episode after cycling. Laboratory tests indicated secondary adrenal insufficiency (morning cortisol 0.77 µg/dl, normal range 4.82-19.5; ACTH 14.9 pg/ml, normal range 7.2-63.3; diurnal profile: maximum cortisol 2.09 µg/dl, ACTH 15.8 pg/ml), secondary hypothyroidism (FT4 0.6 ng/dl, normal range 0.98-1.63; FT3 1.98 pg/ml, normal range 2.53-5.01; TSH 3.00 µIU/ml, normal range 0.51-4.3), hypogonadotropic hypogonadism (FSH <0.3 mIU/ml, LH <0.3 mIU/ml; testosterone <0.025 ng/ml, normal range for Tanner stage 5: 1.88-8.82), and growth hormone deficiency (IGF1 31.00 ng/ml, normal range 129-495; bone age delayed by 3 years). No electrolyte abnormalities or hypoglycemia were observed. MRI of the head and pituitary revealed interruption of the pituitary stalk with hyperintense signal of the distal hypothalamic axon, hypoplasia of the anterior pituitary lobe, and ectopic posterior pituitary lobe. Lesions were noted in the right frontal and parietal regions, at the base of the left frontal lobe, in the corpus callosum, and in the right cerebellar hemisphere due to the past injury. The patient received replacement therapy (hydrocortisone, L-thyroxine), leading to an improvement in his general condition and normalization of blood pressure. Future plans include testosterone and recombinant human growth hormone therapy after ensuring fertility preservation. Head trauma history in a patient with multiple hormonal deficiencies and typical MRI findings, without midline body abnormalities, differentiates traumatic pituitary stalk interruption from genetically conditioned pituitary stalk interruption syndrome (PSIS). Diagnosis is often delayed because symptom severity depends on patient’s age and the accurate interpretation of physical examination findings and test results. In every case of severe head trauma, MRI of the hypothalamus and pituitary with hormonal evaluation should be performed.