Background: Pituitary Stalk Interruption Syndrome (PSIS) is a rare congenital abnormality of the pituitary that is responsible for anterior pituitary deficiency. It is characterized by a classic triad of interrupted pituitary stalk, absent or ectopic posterior pituitary, and anterior pituitary hypoplasia or aplasia. Hypothalamic hypothyroidism, hyperprolactinemia and deficiency of anterior pituitary hormones are typical characteristics. Clinical presentation varies according to age of diagnosis, patients usually complaints of short strature and delayed puberty.
Results: (Case presentation) A 5.5 months old boy applied with a complaint of micropenis. He was born in term from a healthy 27 years old mother, via C/S due to head/pelvis unsuitability with a birth weight of 3300 g, had been followed up for hypoglicemia and jaundice in newborn period and had no known disorder. In his family history, there was no similar disorder or consanguinity between parents. On physical exam: weight: 7740 g (2550p)(−0.39 S.D.), height: 67.5 cm (2550p)(−0.22 S.D.), puberty Tanner stage-1, stretched penis lenght:2.5 cm (<10p). There was no dysmorphic finding, other system examinations were normal and neuromotor development was appropriate to his age. In his laboratory exams: TSH:8.96 μIU/ml, fT4:0.7 ng/dl, fT3:3.45 pg/ml, LH:1.5 mIU/ml, FSH:0.9 mIU/ml, T.testosteron:2.5 ng/dl, prolactin:49.01 ng/ml, cortisol:1.57 μg/dl, ACTH:11.5 pg/ml, IGF1 <25 ng/ml, IGFBP-3:1.13 μg/ml, urine density:1025. Low dose ACTH stimulating test indicated central adrenal insufficiency, TRH test indicated hypothalamic hypothyroidism and LHRH stimulation leaded to prepubertal LH response. Pituitary gland MRI showed normal pituitary height, absence of pituitary stalk and ectopic neurohypophysis, Cranial MRI was normal. In the 4 months follow up period of the patient who received hydrocortison, Na-L-thyroxin and local dihydrotestorteron treatment, growth rate is normal according to his age and planned to perform growth hormone stimulating tests when his growth slows.
Conclusion: The early diagnosis of anterior pituitary deficiency is important to avoid from possible mortality and morbidity. This case who is diagnosed as PSIS in infant period will be presented to emphasize the importance of early diagnose and treatment in deficiency of multipl pituitary hormones as well.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology