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Delayed adrenarche may be an additional feature of immunoglobulin super family member 1 deficiency syndrome

Severine Van Hulle, Margarita Craen, Bert Callewaert UGent, Sjoerd Joustra, Wilma Oostdijk, Monique Losekoot, Jan Maarten Wit, Marc Olivier Turgeon, Daniel J Bernard and Jean De Schepper UGent (2016) JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY. 8(1). p.86-91
abstract
Immunoglobulin super family member 1 (IGSF1) deficiency syndrome is characterized by central hypothyroidism, delayed surge in testosterone during puberty, macro-orchidism, and in some cases, hypoprolactinemia and/or transient growth hormone (GH) deficiency. Our patient was a 19-year-old male adolescent who had been treated since the age of 9 years with GH and thyroxine for an idiopathic combined GH, thyroid-stimulating hormone (TSH), and prolactin (PRL) deficiency. His GH deficiency proved to be transient, but deficiencies of TSH and PRL persisted, and he had developed macro-orchidism since the end of puberty. Brain magnetic resonance imaging and PROP1 and POU1F1 sequencing were normal. A disharmonious puberty (delayed genital and pubic hair development, bone maturation, and pubertal growth spurt, despite normal testicular growth) was observed as well as a delayed adrenarche, as reflected by very low dehydroepiandrosterone sulfate and delayed pubarche. Direct sequencing of the IGSF1 gene revealed a novel hemizygous mutation, c.3127T>C, p.Cys1043Arg. Pathogenicity of the mutation was demonstrated in vitro. Male children with an idiopathic combined GH, PRL, and TSH deficiency, showing persistent central hypothyroidism but transient GH deficiency upon retesting at adult height, should be screened for mutations in the IGSF1 gene, especially when macro-orchidism and/or hypoprolactinemia are present. We suspect that delayed adrenarche, as a consequence of PRL deficiency, might be part of the clinical phenotype of patients with IGSF1 deficiency.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
Immunoglobulin super family member 1 deficiency syndrome, central hypothyroidism, macro-orchidism, delayed adrenarche, novel mutation, DEHYDROEPIANDROSTERONE-SULFATE, CENTRAL HYPOTHYROIDISM, PROLACTIN PRL, RECEPTOR, IGSF1, ANDROGENS, HORMONE
journal title
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
J. Clin Res. Pediatr. Endocrinol.
volume
8
issue
1
pages
86 - 91
Web of Science type
Article
Web of Science id
000378168600013
JCR category
PEDIATRICS
JCR impact factor
1.118 (2016)
JCR rank
90/121 (2016)
JCR quartile
3 (2016)
ISSN
1308-5727
DOI
10.4274/jcrpe.2512
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
7195208
handle
http://hdl.handle.net/1854/LU-7195208
date created
2016-04-25 16:18:21
date last changed
2017-06-28 10:16:37
@article{7195208,
  abstract     = {Immunoglobulin super family member 1 (IGSF1) deficiency syndrome is characterized by central hypothyroidism, delayed surge in testosterone during puberty, macro-orchidism, and in some cases, hypoprolactinemia and/or transient growth hormone (GH) deficiency. Our patient was a 19-year-old male adolescent who had been treated since the age of 9 years with GH and thyroxine for an idiopathic combined GH, thyroid-stimulating hormone (TSH), and prolactin (PRL) deficiency. His GH deficiency proved to be transient, but deficiencies of TSH and PRL persisted, and he had developed macro-orchidism since the end of puberty. Brain magnetic resonance imaging and PROP1 and POU1F1 sequencing were normal. A disharmonious puberty (delayed genital and pubic hair development, bone maturation, and pubertal growth spurt, despite normal testicular growth) was observed as well as a delayed adrenarche, as reflected by very low dehydroepiandrosterone sulfate and delayed pubarche. Direct sequencing of the IGSF1 gene revealed a novel hemizygous mutation, c.3127T{\textrangle}C, p.Cys1043Arg. Pathogenicity of the mutation was demonstrated in vitro. Male children with an idiopathic combined GH, PRL, and TSH deficiency, showing persistent central hypothyroidism but transient GH deficiency upon retesting at adult height, should be screened for mutations in the IGSF1 gene, especially when macro-orchidism and/or hypoprolactinemia are present. We suspect that delayed adrenarche, as a consequence of PRL deficiency, might be part of the clinical phenotype of patients with IGSF1 deficiency.},
  author       = {Van Hulle, Severine and Craen, Margarita and Callewaert, Bert and Joustra, Sjoerd and Oostdijk, Wilma and Losekoot, Monique and Wit, Jan Maarten and Turgeon, Marc Olivier and Bernard, Daniel J and De Schepper, Jean},
  issn         = {1308-5727},
  journal      = {JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY},
  keyword      = {Immunoglobulin super family member 1 deficiency syndrome,central hypothyroidism,macro-orchidism,delayed adrenarche,novel mutation,DEHYDROEPIANDROSTERONE-SULFATE,CENTRAL HYPOTHYROIDISM,PROLACTIN PRL,RECEPTOR,IGSF1,ANDROGENS,HORMONE},
  language     = {eng},
  number       = {1},
  pages        = {86--91},
  title        = {Delayed adrenarche may be an additional feature of immunoglobulin super family member 1 deficiency syndrome},
  url          = {http://dx.doi.org/10.4274/jcrpe.2512},
  volume       = {8},
  year         = {2016},
}

Chicago
Van Hulle, Severine, Margarita Craen, Bert Callewaert, Sjoerd Joustra, Wilma Oostdijk, Monique Losekoot, Jan Maarten Wit, Marc Olivier Turgeon, Daniel J Bernard, and Jean De Schepper. 2016. “Delayed Adrenarche May Be an Additional Feature of Immunoglobulin Super Family Member 1 Deficiency Syndrome.” Journal of Clinical Research in Pediatric Endocrinology 8 (1): 86–91.
APA
Van Hulle, Severine, Craen, M., Callewaert, B., Joustra, S., Oostdijk, W., Losekoot, M., Wit, J. M., et al. (2016). Delayed adrenarche may be an additional feature of immunoglobulin super family member 1 deficiency syndrome. JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 8(1), 86–91.
Vancouver
1.
Van Hulle S, Craen M, Callewaert B, Joustra S, Oostdijk W, Losekoot M, et al. Delayed adrenarche may be an additional feature of immunoglobulin super family member 1 deficiency syndrome. JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY. 2016;8(1):86–91.
MLA
Van Hulle, Severine, Margarita Craen, Bert Callewaert, et al. “Delayed Adrenarche May Be an Additional Feature of Immunoglobulin Super Family Member 1 Deficiency Syndrome.” JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY 8.1 (2016): 86–91. Print.