IGSF1 Deficiency Results in Human and Murine Somatotrope Neurosecretory Hyperfunction | Zendy

Sjoerd D. Joustra | Zendy; Ferdinand Roelfsema | Zendy; A.S. Paul van Trotsenburg | Zendy; Harald J. Schneider | Zendy; Robert P. Kosilek | Zendy; Herman M. Kroon | Zendy; John G. Logan | Zendy; Natalie C. Butterfield | Zendy; Xiang Zhou | Zendy; Chirine Toufaily | Zendy; Beata Bąk | Zendy; MarcOlivier Turgeon | Zendy; Emilie Brûlé | Zendy; Frederik J. Steyn | Zendy; Mark Gurnell | Zendy; Olympia Koulouri | Zendy; Paul Le Tissier | Zendy; Pierre Fontanaud | Zendy; J. H. Duncan Bassett | Zendy; Graham R. Williams | Zendy; Wilma Oostdijk | Zendy; Jan M. Wit | Zendy; Alberto M. Pereira | Zendy; Nienke R. Biermasz | Zendy; Daniel J. Bernard | Zendy; Nadia Schoenmakers | Zendy

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IGSF1 Deficiency Results in Human and Murine Somatotrope Neurosecretory Hyperfunction

Author(s) -

Sjoerd D. Joustra,

Ferdinand Roelfsema,

A.S. Paul van Trotsenburg,

Harald J. Schneider,

Robert P. Kosilek,

Herman M. Kroon,

John G. Logan,

Natalie C. Butterfield,

Xiang Zhou,

Chirine Toufaily,

Beata Bąk,

MarcOlivier Turgeon,

Emilie Brûlé,

Frederik J. Steyn,

Mark Gurnell,

Olympia Koulouri,

Paul Le Tissier,

Pierre Fontanaud,

J. H. Duncan Bassett,

Graham R. Williams,

Wilma Oostdijk,

Jan M. Wit,

Alberto M. Pereira,

Nienke R. Biermasz,

Daniel J. Bernard,

Nadia Schoenmakers

Publication year - 2019

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/clinem/dgz093

Subject(s) - medicine , somatotropic cell , endocrinology , biology , basal (medicine) , pituitary gland , hormone , insulin

The X-linked immunoglobulin superfamily, member 1 (IGSF1), gene is highly expressed in the hypothalamus and in pituitary cells of the POU1F1 lineage. Human loss-of-function mutations in IGSF1 cause central hypothyroidism, hypoprolactinemia, and macroorchidism. Additionally, most affected adults exhibit higher than average IGF-1 levels and anecdotal reports describe acromegaloid features in older subjects. However, somatotrope function has not yet been formally evaluated in this condition.

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