J. End oc rin ol. Inves t. 17347 -350 , 1994 CASE REPORT Congenital panhypopituitarism of late onset P. Navarro, I. Halperin, C. Rodriguez, J .- M. Gonzalez, J. Vidal, and E. Vilardell Endocrinology and Nutrition Unit, Hospital Clinic, Barcelona, Spain ABSTRACT. A 29-year-old male was diagnosed congenital panhypopituitarism due to pituitary hy- poplasia, absence of pituitary stalk and ectopic neu- rohypophisis. This report, together with bibliographic review, may induce to reconsidering isolated GH failures, partial hypopituitarisms and panhypopitu- itarisms which have up to now been interpreted as idiopathic. The availability of new image techniques has allowed a better definition of the anatomic subs- INTRODUCTION Hypoplasic or aplasic pituitary in relation with unde- veloped pituitary stalk demonstrated by necropsy was first reported in cases of severe panhypopitu- itarism of the newborn (1 , 2). On the other hand , the investigation of panhypopituitarism, or even isolated GH deficiency diagnosed during childhood often dis- closes a hypothalamic origin. The study of these pa- tients by new image techniques (CT-scan and mag- netic resonance) has demonstrated the same anatomical alterations previously described in the se- vere panhypopituitarism of the newborn (3-7). In the light of these findings, the concept of pituitary aplasia or hypoplasia associated with absence of pituitary stalk always presenting as precocious severe pan- hypopituitarism must be revised. The hypothesis of a similar congenital anatomic substrate with a milder and later clinical onset may be postulated. We here report a case of panhypopituitarism due to pituitary hypoplasia, absence of pituitary stalk and ectopic neurohypophisis diagnosed in an adult subject. CASE REPORT A 29-year-old man consulted for short stature and lack of se xual development. There was no family Correspondence. Pino Navarro Tellez. P.za Sta M' de la Cabeza 6,5° C. 03400, Vil/ena, Alicante, Spain. Key-words: Hypopituitarism, congenitae. Received July 26, 1993; accepted December 6, 1993. 347 trate of these alterations, and more subtle hormon- al studies have pointed out, in some cases, their possible hypothalamic origin. On this basis, some of these cases may be interpreted as presenting the same alteration as those described in necropsy of newborns dead due to severe panhypopituitarism. Therefore, a unique clinical picture with various de- grees of severity may be postulated. history of pituitary or thyroid disease, or growth fail- ure. He had two normal siblings. He had presented pulmonary tuberculosis when he was 7-year-old. Evidence of growth delay and constipation ap- peared along childhood and he later failed to de- velop puberty. He was passive, adynamic, brady- cardic (56 beats/min), hypotense (80/50mmHg) and hypothermic (35 C) , with height 153 cm ; weight 43.3 kg ; cold, dry and yellowish-pale skin; and a pre- pubertal stage of se xual development (testicular vol- ume <2 ml). Bone age was 13 yr. Laboratory find- ings included normocytic anemia (hemoglobin 109 g/I; hematocrit 32%; MCV 83 /lm 3 /cell) and hyper- lipemia (serum cholesterol 283 mg/dl; triglycerides 220 mg/dl). Endocrine investigation revealed pan- hypopituitarism (hypothalamic hypothyroidism; adrenal failure with partial response to Corticotropin Releasing Factor suggesting a hypothalamic origin; hypogonadotropic hypogonadism with normal pro- lactin and no further data about pituitary or hypotha- lamic origin and probably hypothalamic GH failure) (Table 1). Neurohypophyseal function was as- sessed by hypertonic saline infusion, with normal ADH response. Magnetic resonance imaging showed a normal sella turcica, with a small adeno- hypophys is , absence of both the hyperintense neu- rohypophysis image within the sella and of the pi- tuitary stalk and an hyperintense nodule in the me- dian eminence suggesting an ectopic neurohy- pophysis (Fig. 1). There was no evidence of in- tracranial involvement by tuberculosis. After these findings the diagnosis of panhypopituitazism due to pituitary hypoplasia and absence of pituitary stalk,