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Joustra SD, van Trotsenburg AS, Sun Y, et al. IGSF1 deficiency syndrome: A newly uncovered endocrinopathy. Rare Dis. 2013;1:e24883doi: 10.4161/rdis.24883.
Joustra, S. D., van Trotsenburg, A. S., Sun, Y., Losekoot, M., Bernard, D. J., Biermasz, N. R., Oostdijk, W., & Wit, J. M. (2013). IGSF1 deficiency syndrome: A newly uncovered endocrinopathy. Rare diseases (Austin, Tex.), 1e24883. https://doi.org/10.4161/rdis.24883
Joustra, Sjoerd D, et al. "IGSF1 deficiency syndrome: A newly uncovered endocrinopathy." Rare diseases (Austin, Tex.) vol. 1 (2013): e24883. doi: https://doi.org/10.4161/rdis.24883
Joustra SD, van Trotsenburg AS, Sun Y, Losekoot M, Bernard DJ, Biermasz NR, Oostdijk W, Wit JM. IGSF1 deficiency syndrome: A newly uncovered endocrinopathy. Rare Dis. 2013 May 02;1:e24883. doi: 10.4161/rdis.24883. eCollection 2013. PMID: 25002994; PMCID: PMC3915563.
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Rare Dis. 2013 May 02;1:e24883. doi: 10.4161/rdis.24883. eCollection 2013.

IGSF1 deficiency syndrome: A newly uncovered endocrinopathy.

Rare diseases (Austin, Tex.)

Sjoerd D Joustra, A S Paul van Trotsenburg, Yu Sun, Monique Losekoot, Daniel J Bernard, Nienke R Biermasz, Wilma Oostdijk, Jan M Wit

Affiliations

  1. Department of Pediatrics; Leiden University Medical Center; Leiden, The Netherlands ; Department of Endocrinology and Metabolic Disorders; Leiden University Medical Center; Leiden, The Netherlands.
  2. Department of Pediatric Endocrinology; Emma Children's Hospital; Academic Medical Center; University of Amsterdam; Amsterdam, The Netherlands.
  3. Center for Human and Clinical Genetics; Leiden University Medical Center; Leiden, The Netherlands.
  4. Department of Pharmacology and Therapeutics; McGill University; Montreal, QC Canada.
  5. Department of Endocrinology and Metabolic Disorders; Leiden University Medical Center; Leiden, The Netherlands.
  6. Department of Pediatrics; Leiden University Medical Center; Leiden, The Netherlands.

PMID: 25002994 PMCID: PMC3915563 DOI: 10.4161/rdis.24883

Abstract

A recently uncovered X-linked syndrome, caused by loss-of-function of IGSF1, is characterized by congenital central hypothyroidism and macroorchidism, variable prolactin deficiency, occasional growth hormone deficiency, delayed pubertal testosterone secretion and obesity. We propose to call this endocrinopathy "IGSF1 deficiency syndrome." Based on an estimated incidence of isolated congenital central hypothyroidism of 1:65,000, we predict that the incidence of IGSF1 deficiency related hypothyroidism is approximately 1:100,000. IGSF1 encodes a plasma membrane immunoglobulin superfamily glycoprotein that is highly expressed in pituitary and testis, but is of unknown function. The variable profile of pituitary dysfunction suggests that IGSF1 may play a role in pituitary paracrine regulation. The clinical significance of the syndrome, particularly the clinical consequences of untreated hypothyroidism, justifies screening family members of patients with IGSF1 mutations for carriership and to study potential carriers of IGSF1 mutations, including patients with idiopathic central hypothyroidism, combined GH and TSH deficiency, macroorchidism or delayed puberty.

Keywords: IGSF1; central hypothyroidism; macroorchidism; obesity; prolactin

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