A 62-year-old woman presented with general malaise persisting for 2 months and narrowing of her visual field. T1-weighted magnetic resonance (MR) imaging showed swelling of the pituitary gland and stalk, and a homogeneous isointense intra- and suprasellar mass enhanced by gadolinium. During outpatient follow up, her condition deteriorated rapidly and she developed diabetes insipidus and panhypopituitarism. T1-weighted MR imaging demonstrated shrinkage of the lesion and disappearance of the central hypointense area indicating the cyst cavity, especially in the pituitary stalk. She underwent surgical exploration via the transsphenoidal approach under a provisional diagnosis of lymphocytic hypophysitis. Histological examination revealed ciliated columnar cells and squamous metaplasia on the inner surface of the cyst wall, with many foamy cells, infiltration by many lymphoid cells and some eosinophils, and fibrosis in the adenohypophysitis and inflammatory hypophysitis in the anterior and posterior pituitary gland. The present neuroimaging findings of cyst shrinkage associated with rapid clinical deterioration strongly support the suggestion that rupture of Rathke's cleft cyst causes inflammatory hypophysitis.

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Abstract. The ratio, clinical characteristics, and therapeutic efficacy of hGH treatment in patients with severe short stature (HtSDS below -4SD) with severe GHD (all peak GH values to provocation tests: below 2 mg/L) were studied. From March 1986 to January 1998, 23,110 patients with idiopathic GH deficiency (IGHD) were registered with the Foundation for Growth Science, Japan. These subjects were divided into 5 groups as follows: Group 1 (G1), all subjects; Group 2 (G2), at least one GH peak to provocative test ³5 mg/L; Group 3 (G3), 2 mg/L£GH peak<5 mg/L; Group 4 (G4), all GH peaks<2 mg/L and HtSDS>-4; Group 5 (G5), all GH peaks<2 mg/L and HtSDS£-4. The ratio of G5 was 139 patients (0.6%) out of 23,110 patients with IGHD. In G5, there were no significant differences in birth weight, birth length, gestational age and parental height between G2, G3 and G4. However, asphyxia at delivery was more frequent in G5 and G4 than G2 and G3. Chronological age (CA), bone age (BA) and BA/CA ratio at registration were significantly lower in G5 than G2, G3 and G4. Further, the IGF-I SD score in G5 was significantly lower than those in G2 and G3. After hGH treatment, the final height and final height SDS in G5 remained the lowest, while the DHtSDS value in G5 was the greatest among G2 to G5 groups. In conclusion, the ratio of severe short stature with severe GH deficiency (G5) is only 0.6% of all IGHD cases. Growth failure in G5 seems to occur after birth, and its etiology in G5 seems to be different from that of patients with other forms of IGHD. Early diagnosis and hGH treatment are needed to attain better final height.

Abstract. In this study, we sent questionnaires to doctors treating severe short stature with severe GH deficiency (GHD) (height SDS (HtSDS) below -4 and all peak GH to provocative stimuli below 2 m/L) (abbreviated as Severe Case), and obtained effective replies of 51 cases. The clinical characteristics, etiologies, and pathophysiology of these patients were examined. Among the 51 Severe Cases no consanguinity was observed, 44 were IGHD (24 males and 20 females), 3 were GH-1 gene deletion, 2 were Pit-1 gene mutation, and 2 were achondroplasia. HtSDS in these Severe Cases was already remarkably low at 12 (-3.0) and 24 months old (-3.9), while their birth weight and birth length were within normal ranges. Among 44 patients with IGHD, 12 were isolated GHD, and the remaining 32 were combined pituitary hormone deficiency (CPHD). Pituitary MRI was undergone in 25 idiopathic GHD, and abnormal findings (pituitary atrophy, interruption of stalk, and ectopic posterior lobe) were observed in 21 patients with CPHD. More than half of these patients had the history of breech delivery. Three patients with GH-1 gene mutation showed normal pituitary MRI, whereas one of two patients with Pit-1 mutation showed pituitary atrophy and narrowing of pituitary stalk. In conclusion, Severe Cases tended to have CPHD, and the incidence of Severe Case was only 0.6% of total IGHD. Although GHD due to genetic disorders is considered to be extremely rare (0.06% of total IGHD), the incidence reaches high levels (9.8%) among Severe Cases. Growth disorders in these Severe Cases seem to occur soon after delivery. Much earlier diagnosis and hGH treatment are desirable to attain better final height in the Severe Cases. GH-1 and Pit-1 gene analyses are crucial, when genetic abnormalities other than achondroplasia are suspected.

A 33-year-old man with hypopituitarism is documented. He was born at breech presentation without asphyxia. He was the shortest in his class throughout his school days. He kept slowly growing and reached 172.8 cm at the age of 33. He was devoid of secondary sexual characteristics. Endocrinological studies showed panhypopituitarism with elevated levels of plasma TSH (15.0 microU/ml). TRH administration resulted in a marked increase in plasma TSH. Posterior pituitary function was normal. MR imaging showed transection of the pituitary stalk and the presence of ectopic and eutopic posterior lobes. The replacement of corticosteroid was initiated, and exaggerated response of TSH to TRH disappeared. Delayed bone maturation due to hypogonadism and hypothyroidism was one of the reasons why he had normal height without GH therapy. The significance of his peculiar MRI findings remains to be determined.