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- W2093775391 abstract "A 35-month-old black boy with Hallermann–Streiff syndrome (HSS) was evaluated for anterior hypopituitarism when he presented with ketotic hypoglycemia, microgenitalia, and short stature. Endocrine evaluation showed a low T4 and TSH levels, suggesting hypothalamic hypothyroidism; this was confirmed by TRH stimulation. Metyrapone test confirmed ACTH deficiency as a contributing factor to the ketotic hypoglycemia. A superagonist GnRH test suggested hypothalamic GnRH deficiency. Growth hormone provocative testing conclusively demonstrated complete growth hormone deficiency. MRI investigation of the brain suggested hypopituitarism. Although facial findings were not completely classical of the HSS, we suggest these may be some what altered due to his racial background. We recommend endocrine evaluation of HSS patients with manifestations suggesting hypopituitarism since treatment of this condition will improve the quality of life of these patients." @default.
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- W2093775391 date "1991-12-15" @default.
- W2093775391 modified "2023-09-23" @default.
- W2093775391 title "Hallermann-Streiff syndrome with hypopituitarism contributing to growth failure" @default.
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- W2093775391 doi "https://doi.org/10.1002/ajmg.1320410425" @default.
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