IGSF1 deficiency syndrome

Classification according to ICD-10
E03.1	Congenital hypothyroidism without goiter
ICD-10 online (WHO version 2019)

The IGSF1 deficiency syndrome is a very rare congenital disease with the main features of a central congenital hypothyroidism and Makroorchidie .

Synonyms are: X-linked congenital central hypothyroidism with late onset macroorchidia; English IGSF1 deficiency syndrome; X-linked central congenital hypothyroidism with late-onset macroorchidism; central hypothyroidism / testicular enlargement (CHTE)

The first description was made in 2012 in a multicenter study led by the Dutch human geneticist Yu. Sun and employees.

distribution

The frequency is given as less than 1 in 100,000, inheritance is X-linked - recessive .

root cause

Of the disease are mutations in IGSF1 - gene on the X chromosome locus q26.1 based encoding a glycoprotein of the immunoglobulin superfamily encodes (immunoglobulin superfamily member 1). This glycoprotein is made by the pituitary gland and testes .

Clinical manifestations

Clinical criteria are:

Manifestation in newborn or early childhood
congenital central hypothyroidosis
Macro orchidy as an adult
varying degrees of deficiency in prolactin
sometimes growth hormone deficiency
delayed production of testosterone during puberty
Obesity

Differential diagnosis

Other forms of congenital hypothyroidism must be differentiated.

literature

SD Joustra, CA Heinen u. a .: IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management. In: The Journal of Clinical Endocrinology & Metabolism. Vol. 101, 2016, p. 1627, doi: 10.1210 / jc.2015-3880 .
SD Joustra, N. Schoenmakers et al. a .: The IGSF1 Deficiency Syndrome: Characteristics of Male and Female Patients. In: The Journal of Clinical Endocrinology & Metabolism. Vol. 98, 2013, p. 4942, doi: 10.1210 / jc.2013-2743 .

Individual evidence

↑ ^a ^b X-linked congenital central hypothyroidism with late-onset testicular enlargement. In: Orphanet (Rare Disease Database).
^ Y. Sun, B. Bak, N. Schoenmakers, AS van Trotsenburg, W. Oostdijk, P. Voshol, E. Cambridge, JK White, P. le Tissier, SN Gharavy, JP Martinez-Barbera, WH Stokvis-Brantsma, T. Vulsma, MJ Kempers, L. Persani, I. Campi, M. Bonomi, P. Beck-Peccoz, H. Zhu, TM Davis, AC Hokken-Koelega, DG Del Blanco, JJ Rangasami, CA Ruivenkamp, JF Laros, M. Kriek, SG Kant, CA Bosch, NR Biermasz, NM Appelman-Dijkstra, EP Corssmit, GC Hovens, AM Pereira, JT den Dunnen, MG Wade, MH Breuning, RC Hennekam, K. Chatterjee, MT Dattani, JM Wit, DJ Bernard: Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. In: Nature genetics. Volume 44, number 12, December 2012, pp. 1375-1381, doi: 10.1038 / ng.2453 , PMID 23143598 , PMC 3511587 (free full text).
↑ ^a ^b ^c Sjoerd D. Joustra, AS Paul van Trotsenburg, Yu Sun, Monique Losekoot, Daniel J. Bernard, Nienke R. Biermasz, Wilma Oostdijk, Jan M. Wit: IGSF1 deficiency syndrome. In: Rare Diseases. Vol. 1, 2014, p. E24883, doi: 10.4161 / rdis.24883 .
^ Hypothyroidism, central, and testicular enlargement. In: Online Mendelian Inheritance in Man . (English)

[Orpha-1] X-linked congenital central hypothyroidism with late-onset testicular enlargement. In: Orphanet (Rare Disease Database).

[2] Y. Sun, B. Bak, N. Schoenmakers, AS van Trotsenburg, W. Oostdijk, P. Voshol, E. Cambridge, JK White, P. le Tissier, SN Gharavy, JP Martinez-Barbera, WH Stokvis-Brantsma, T. Vulsma, MJ Kempers, L. Persani, I. Campi, M. Bonomi, P. Beck-Peccoz, H. Zhu, TM Davis, AC Hokken-Koelega, DG Del Blanco, JJ Rangasami, CA Ruivenkamp, JF Laros, M. Kriek, SG Kant, CA Bosch, NR Biermasz, NM Appelman-Dijkstra, EP Corssmit, GC Hovens, AM Pereira, JT den Dunnen, MG Wade, MH Breuning, RC Hennekam, K. Chatterjee, MT Dattani, JM Wit, DJ Bernard: Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. In: Nature genetics. Volume 44, number 12, December 2012, pp. 1375-1381, doi: 10.1038 / ng.2453 , PMID 23143598 , PMC 3511587 (free full text).

[Sjoerd-3] Sjoerd D. Joustra, AS Paul van Trotsenburg, Yu Sun, Monique Losekoot, Daniel J. Bernard, Nienke R. Biermasz, Wilma Oostdijk, Jan M. Wit: IGSF1 deficiency syndrome. In: Rare Diseases. Vol. 1, 2014, p. E24883, doi: 10.4161 / rdis.24883 .

[4] Hypothyroidism, central, and testicular enlargement. In: Online Mendelian Inheritance in Man . (English)