Endocrine Abstracts

Pituitary stalk interruption syndrome (PSIS) is a rare developmental defect identified by magnetic resonance imaging and characterized by a thin or interrupted pituitary stalk, aplasia or hypoplasia of the anterior pituitary and absent or ectopic posterior pituitary. The presenting phenotype and symptomatology vary widely. It includes variable degree of isolated or combined pituitary hormone deficiencies with progressive onset, most commonly growth hormone or gonadotropin and extrapituitary malformations. Although PSIS is most frequently diagnosed during childhood and the neonatal period, some individuals may not be diagnosed until adulthood. We report an 18-year-old girl with a history of irregular menstruation that had started 2 years prior to the visit. she born out of non-consanguineous marriage, There was no history of any systemic illness, drug intake or head injury. The pregnancy, labor, delivery and neonatal period had been unremarkable. Family history was not significant. On examination she weighed 75 kg with a BMI of 35.76 kg/m, the waist circumference was 109 cm, and her height was 145 cm (-3SDS, height age 12 years, target height 156,5 cm, upper to lower segment ratio1,13). She had severe proportionate short stature with typical facies of growth hormone(GH) deficiency as a cherubic facial appearance with flat nasal bridge, frontal bossing and midface hypoplasia. She had normal pubertal onset and development without galactorrhea. She had no history of polydipsia, polyuria, headache and visual defects. She had no associated malformations or features of Turner syndrome. After exclusion of systemic disorders, endocrine analysis, showed isolated GH deficiency with hyperprolactinemia. The remainder pituitary evaluation was normal. Others causes of hyperprolactinemia have been excluded. Hand Bone age was ~17 year and X ray evaluation of iliac apophysis was found in Risser Grade V. Pelvic ultrasound showed no abnormality of pelvic structures and neck ultrasound showed normal thyroid. Magnetic resonance imaging (MRI) of brain showed nonvisible stalk with ectopic posterior pituitary and hypoplastic anterior pituitary. The diagnosis of PSIS was made because of association of physical exam and endocrine findings with magnetic resonance imaging. Late diagnosis of PSIS leads to definitive adult short stature and psychosocial problems. Prompt and appropriate hormone substitution improve final adult height. Our case is interesting because, it highlights the importance of physician clinical awareness and early identification and referral for children with growth disorders to pediatric endocrinologists and because the unique association of GH deficiency and hyperprolactinemia in PSIS with resultant spaniomenorrhea despite having a conserved pituitary gonadal axis and normal pubertal development.