{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T02:07:00Z","timestamp":1771639620263,"version":"3.50.1"},"reference-count":19,"publisher":"BMJ","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Archives of Disease in Childhood"],"published-print":{"date-parts":[[1978,8,1]]},"DOI":"10.1136\/adc.53.8.664","type":"journal-article","created":{"date-parts":[[2008,12,22]],"date-time":"2008-12-22T21:33:49Z","timestamp":1229981629000},"page":"664-667","source":"Crossref","is-referenced-by-count":24,"title":["Familial syndrome with panhypopituitarism, hypoplasia of the hypophysis, and poorly developed sella turcica."],"prefix":"10.1136","volume":"53","author":[{"given":"P","family":"Sipponen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Simila","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y","family":"Collan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Autere","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Herva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","reference":[{"key":"ref_1","article-title":"The necropsy findings showed a severe hypophyseal anomaly in both of these sisters. A hypophysis could not be found in Case 1 who lived for 2*5 years. The fact that she lived this long might suggest that some hypophyseal tissue was present. Usually, patients with hypophyseal aplasia die soon after delivery, although there are some who have lived for years with intensive replacement therapy (Steiner and Boggs, 1965; Sadeghi-Nejad and Senior","year":"1974","unstructured":"The necropsy findings showed a severe hypophyseal anomaly in both of these sisters. A hypophysis could not be found in Case 1 who lived for 2*5 years. The fact that she lived this long might suggest that some hypophyseal tissue was present. Usually, patients with hypophyseal aplasia die soon after delivery, although there are some who have lived for years with intensive replacement therapy (Steiner and Boggs, 1965; Sadeghi-Nejad and Senior, 1974)."},{"key":"ref_2","first-page":"327","article-title":"In addition to hypoplastic hypophysis, Case 2 showed clinical and laboratory evidence suggestive of polyendocrinopathy-primary hypocortisolism, slight primary hypothyroidism, and deficiency of HGH. Both patients suffered from severe hypoglycaemia and, in addition, atrophy of both thyroid and adrenal glands was revealed at necropsy. Clinical findings have been uniform in cases showing hypoplasia of the hypophysis (Blizzard and Alberts, 1956; Mosier, 1956; Ehrlich","volume":"107","author":"and Stone, 1969, Johnson","year":"1957","unstructured":"In addition to hypoplastic hypophysis, Case 2 showed clinical and laboratory evidence suggestive of polyendocrinopathy-primary hypocortisolism, slight primary hypothyroidism, and deficiency of HGH. Both patients suffered from severe hypoglycaemia and, in addition, atrophy of both thyroid and adrenal glands was revealed at necropsy. Clinical findings have been uniform in cases showing hypoplasia of the hypophysis (Blizzard and Alberts, 1956; Mosier, 1956; Ehrlich, 1957; Ferrier and Stone, 1969; Johnson et al., 1973) or those in whom aplasia of the hypophysis was present (Brewer, 1957; Reid, 1960; Steiner and Boggs, 1965; Moncrieff et al., 1972; Sadeghi-Nejad and Senior, 1974). Our cases, however, had two additional prominent features. Firstly, hypophyseal hypoplasia was probably inherited and, secondly, Aimone, V., and Campagnoli, C. (1970). Severe adrenal hypoplasia in a live-born normocephalic infant with neurohypophyseal aplasia. American Journal of Obstetrics and Gynecology, 107, 327-328.","journal-title":"American Journal of Obstetrics and Gynecology; or those in whom aplasia of the hypophysis was present"},{"key":"ref_3","first-page":"782","article-title":"Hypopituitarism, hypoadrenalism, and hypogonadism in the newborn infant","volume":"48","author":"Blizzard, R.M.; Alberts, M.","year":"1956","unstructured":"Blizzard, R. M., and Alberts, M. (1956). Hypopituitarism, hypoadrenalism, and hypogonadism in the newborn infant. Joutnal ofPediatrics, 48, 782-792.","journal-title":"Joutnal ofPediatrics"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1016\/0002-9343(65)90127-0","article-title":"An evaluation of seventy-five patients with hypopituitarism beginning in childhood","volume":"38","author":"Brasel, A.; Wright, J.C.; Wilkins, L.; Blizzard, R.M.","year":"1965","unstructured":"Brasel, A., Wright, J. C., Wilkins, L., and Blizzard, R. M. (1965). An evaluation of seventy-five patients with hypopituitarism beginning in childhood. American Journal of Medicine, 38, 484-498.","journal-title":"American Journal of Medicine"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1002\/path.1700730109","article-title":"Congenital absence of the pituitary gland and its consequences","volume":"73","author":"Brewer, D.B.","year":"1957","unstructured":"Brewer, D. B. (1957). Congenital absence of the pituitary gland and its consequences. 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Journal ofPediatrics, 51, 377-384.","journal-title":"Journal ofPediatrics"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1542\/peds.43.5.858","article-title":"Familial pituitary dwarfism associated with an abnormal sella turcica","volume":"43","author":"Ferrier, P.A.; Stone, Jr, E.F.","year":"1969","unstructured":"Ferrier, P. A., and Stone, E. F., Jr (1969). Familial pituitary dwarfism associated with an abnormal sella turcica. Pediatrics, 43, 858-865.","journal-title":"Pediatrics"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"634","DOI":"10.1016\/S0022-3476(73)80589-X","article-title":"Hypoplasia of the anterior pituitary and neonatal hypoglycemia","volume":"82","year":"1973","unstructured":"Johnson, J. D., Hansen, R. C., Albritton, W. L., Werthemann, U., and Christiansen, R. 0. (1973). Hypoplasia of the anterior pituitary and neonatal hypoglycemia. Journal of Pediatrics, 82, 634-641.","journal-title":"Journal of Pediatrics"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1136\/adc.47.251.136","article-title":"Congenital absence of pituitary gland and adrenal hypoplasia","volume":"47","author":"Moncrieff, M.W.; Hill, D.S.; Archer, J.; Arthur, L.J.H.","year":"1972","unstructured":"Moncrieff, M. W., Hill, D. S., Archer, J., and Arthur, L. J. H. (1972). Congenital absence of pituitary gland and adrenal hypoplasia. Archives of Disease in Childhood, 47, 136-137.","journal-title":"Archives of Disease in Childhood"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1016\/S0022-3476(56)80097-8","article-title":"Hypoplasia of the pituitary and adrenal cortex: report of occurrence in twin siblings and autopsy findings","volume":"48","author":"Mosier, H.D.","year":"1956","unstructured":"Mosier, H. D. (1956). Hypoplasia of the pituitary and adrenal cortex: report of occurrence in twin siblings and autopsy findings. Journal ofPediatrics, 48, 633-639.","journal-title":"Journal ofPediatrics"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1016\/S0022-3476(60)80341-1","article-title":"Congenital absence of the pituitary gland","volume":"56","author":"Reid, J.D.","year":"1960","unstructured":"Reid, J. D. (1960). Congenital absence of the pituitary gland. Journal ofPediatrics, 56, 658-664.","journal-title":"Journal ofPediatrics"},{"key":"ref_13","author":"Rimoin, D.L.; Merimee, T.J.; McKusick, V.A.","year":"1966","unstructured":"Rimoin, D. L., Merimee, T. J., and McKusick, V. A. (1966)."},{"key":"ref_14","article-title":"Genetic Disorders of the Endocrine Glands","author":"Rimoin, D.L.; Schimke, R.N.","year":"1971","unstructured":"Rimoin, D. L., and Schimke, R. N. (1971). Genetic Disorders of the Endocrine Glands. 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