SUN-287 A Case of Ectopic Neurohypophysis

Pituitary stalk interruption syndrome (PSIS) is a congenital disorder of the pituitary gland. Symptoms at presentation may vary widely as this disease presents along a spectrum which includes; ectopic posterior pituitary, interrupted pituitary stalk or aplasia and hypoplasia of the pituitary gland. It is a heterogeneous disorder in terms of radiologic and clinical presentation. It can present clinically as an isolated pituitary hormone deficiency (most common being growth hormone deficiency) or as multihormonal deficiencies. CASE PRESENTATION Patient is a 34-year-old woman with history of primary amenorrhea who was evaluated by a gynecologist and was prescribed oral contraceptive pills which lead to her having a menstrual bleed for the first time in her life. She denied any difficulty with smell. She had undergone normal psychomotor milestones and highest level of education was high school. She had normal puberty with normal pubic and axillary hair growth, normal breast development but no menarche. Of note, patient has a short stature, height is 4 feet and 11 inches, and her biological parents are of normal adult height On evaluation, patient had normal am cortisol, prolactin and thyroid function tests. IGF-1 was significantly low for her age, FSH and LH were inappropriately low for her low estradiol level suggesting hypogonadotropic hypogonadism. Patient subsequently had an MRI of the pituitary and DXA scan. MRI findings were suggestive of ectopic neurohypophysis. DXA scan showed significant reduction in bone mineral density for age. Patient is currently being treated with hormonal replacement which is the main modality of treatment for ectopic neurohyphysis. She will need long term follow up as disease progression to pan-hypopituitarism is common. CONCLUSION PSIS is a rare syndrome with different phenotypic presentation depending on when the diagnosis is made; therefore, adequate follow up is indicated as the disease can progress from a single hormonal deficiency to pan-hypopituitarism.

Poland Syndrome with Atypical Malformations Associated to a de novo 1.5 Mb Xp22.31 Duplication

Poland's syndrome (PS; OMIM 173800) is a rare congenital syndrome which consists of absence or hypoplasia of the pectoralis muscle. Other features can be variably associated, including rib defects. On the affected side other features (such as of breast and nipple anomalies, lack of subcutaneous tissue and skin annexes, hand anomalies, visceral, and vertebral malformation) have been variably documented. To date, association of PS with central nervous system malformation has been rarely reported remaining poorly understood and characterized. We report a left-sided PS patient carrying a de novo 1.5 Mb Xp22.31 duplication diagnosed in addiction to strabismus, optic nerves and chiasm hypoplasia, corpus callosum abnormalities, ectopic neurohypophysis, pyelic ectasia, and neurodevelopmental delay. Since, to our knowledge, this features' association has not been previously reported, we argue that this case may contribute to further widening of the variability of PS phenotype.

Extra-pituitary Cerebral Anomalies in Pediatric Patients of Ectopic Neurohypophysis: An Uncommon Association

Context: Ectopic neurohypophysis (EN) refers to an interrupted, nonvisualized, and thinned out pituitary stalk with ectopic location of the posterior pituitary gland. Concurrent extra-pituitary cerebral and extra-cranial anomalies have been rarely reported in patients of EN. Aim: The aim of this study was to evaluate the magnetic resonance imaging (MRI) findings of extra-pituitary cerebral anomalies in pediatric patients of EN. Settings and Design: A hospital-based cross-sectional study was conducted in a tertiary care center. Subjects and Methods: The study group comprised eight pediatric patients of EN associated with extra-pituitary cerebral or vascular anomalies. Clinical and biochemical assessment was done in all patients. Results: Out of the total eight patients with EN, MRI showed interrupted pituitary stalk in five patients (62.5%) and nonvisible pituitary stalk in three patients (37.5%). Ectopic posterior pituitary bright spot was demonstrated in median eminence in six patients (75%), faintly visualized in one patient (12.5%) and nonvisualized in another one patient. Statistical significant association was noted between pituitary gland height and patient's body height with the pituitary gland volume (P < 0.001). Varied extra-pituitary cerebral anomalies encountered in our patients ranged from isolated anomalies such as optic nerve hypoplasia in three patients (37.5%), corpus callosum dysplasia in four patients (50%), agyria-pachygyria complex in two patients (25%), and intracranial vascular anomalies in two patients to syndromic association of tuberous sclerosis in one patient. Conclusion: Identifying and reporting of associated extra-pituitary cerebral anomalies in patients with EN are crucial in assessing the overall neurological outcome of such patients.