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Quoted phrase not found in phrase index: "Congenital macroorchidism"
Page 1
Macroorchidism in childhood and adolescence: an update.
De Sanctis V, Marsella M, Soliman A, Yassin M. De Sanctis V, et al. Pediatr Endocrinol Rev. 2014 Feb;11 Suppl 2:263-73. Pediatr Endocrinol Rev. 2014. PMID: 24683950 Review.
Macroorchidism is a relatively uncommon sign; however, when present, it almost always has clinical relevance. ...In these cases, the patient must be referred to specialized cytogenetic centres for determination of fragile sites. Other possible etiologies of macroorchidi …
Macroorchidism is a relatively uncommon sign; however, when present, it almost always has clinical relevance. ...In these cases, the …
Congenital isolated central hypothyroidism: Novel mutations and their functional implications.
Boelen A, van Trotsenburg ASP, Fliers E. Boelen A, et al. Handb Clin Neurol. 2021;180:161-169. doi: 10.1016/B978-0-12-820107-7.00010-0. Handb Clin Neurol. 2021. PMID: 34225927 Review.
Congenital hypothyroidism is the most frequent endocrine disorder in newborns, occurring in 1 per 3000-4000 newborns. ...In 2012, loss-of-function mutations in the immunoglobulin superfamily, member 1 (IGSF1) gene, were reported as a genetic cause of a syndrome including X …
Congenital hypothyroidism is the most frequent endocrine disorder in newborns, occurring in 1 per 3000-4000 newborns. ...In 2012, los …
Hepatomegaly and fatty liver disease secondary to central hypothyroidism in combination with macrosomia as initial presentation of IGSF1 deficiency syndrome.
Nikolaou M, Vasilakis IA, Marinakis NM, Tilemis FN, Zellos A, Lykopoulou E, Traeger-Synodinos J, Kanaka-Gantenbein C. Nikolaou M, et al. Hormones (Athens). 2023 Sep;22(3):515-520. doi: 10.1007/s42000-023-00468-0. Epub 2023 Jul 26. Hormones (Athens). 2023. PMID: 37493943 Review.
PURPOSE: IGSF1 deficiency syndrome (immunoglobulin superfamily member 1) is considered the most common sex-linked cause of secondary congenital hypothyroidism and is characterized by a wide variety of other clinical and biochemical features, including hypoprolactinemia, tr …
PURPOSE: IGSF1 deficiency syndrome (immunoglobulin superfamily member 1) is considered the most common sex-linked cause of secondary cong …
Rare case of central congenital hypothyroidism due to a TSHbeta mutation presenting with macro-orchidism.
Karguppikar MB, Schoenmakers N, Khadilkar V, Khadilkar A. Karguppikar MB, et al. BMJ Case Rep. 2023 Nov 14;16(11):e252796. doi: 10.1136/bcr-2022-252796. BMJ Case Rep. 2023. PMID: 37963664
A male infant was brought to our paediatric endocrine unit with typical clinical features of congenital hypothyroidism (CH) and striking macro-orchidism. On evaluation, free T3, free T4 and thyroid stimulating hormone (TSH) were found to be low, suggestive of congenital …
A male infant was brought to our paediatric endocrine unit with typical clinical features of congenital hypothyroidism (CH) and strik …
Familial Central Hypothyroidism Caused by a Novel IGSF1 Gene Mutation.
Tenenbaum-Rakover Y, Turgeon MO, London S, Hermanns P, Pohlenz J, Bernard DJ, Bercovich D. Tenenbaum-Rakover Y, et al. Thyroid. 2016 Dec;26(12):1693-1700. doi: 10.1089/thy.2015.0672. Epub 2016 Jul 25. Thyroid. 2016. PMID: 27310681
BACKGROUND: Congenital hypothyroidism of central origin (CH-C) is a rare disease in which thyroid hormone deficiency is caused by insufficient thyrotropin stimulation of a normal thyroid gland. A recently described syndrome of isolated CH-C and macroorchidism was at …
BACKGROUND: Congenital hypothyroidism of central origin (CH-C) is a rare disease in which thyroid hormone deficiency is caused by ins …
A novel mutation of IGSF1 in a Japanese patient of congenital central hypothyroidism without macroorchidism.
Tajima T, Nakamura A, Ishizu K. Tajima T, et al. Endocr J. 2013;60(2):245-9. doi: 10.1507/endocrj.ej13-0009. Epub 2013 Jan 30. Endocr J. 2013. PMID: 23363888 Free article.
Congenital central hypothyroidism (C-CH) is a rare disease known to be caused by mutations of the genes encoding TSH beta or the TRH receptor gene, although the cause of the disease in a number of patients has not yet been clarified. ...
Congenital central hypothyroidism (C-CH) is a rare disease known to be caused by mutations of the genes encoding TSH beta or the TRH …
Macroorchidism: consequence of untreated congenital adrenal hyperplasia.
Rastogi A, Walia R, Saikia UN, Bhansali A. Rastogi A, et al. Indian Pediatr. 2012 Jul;49(7):577-8. doi: 10.1007/s13312-012-0096-3. Indian Pediatr. 2012. PMID: 22885440 Free article.
Testicular adrenal rest tumors (TART) are consequences of delayed diagnosis and/or undertreatment in patients with congenital adrenal hyperplasia (CAH). We describe a case of CAH with TART who presented with bilateral macroorchidism. ...
Testicular adrenal rest tumors (TART) are consequences of delayed diagnosis and/or undertreatment in patients with congenital adrenal …
Congenital Central Hypothyroidism Caused by a Novel IGSF1 Variant Identified in a French Family.
Fourneaux R, Castets S, Godefroy A, Grelet M, Abeillon-du Payrat J, Saveanu A, Castinetti F, Reynaud R. Fourneaux R, et al. Horm Res Paediatr. 2022;95(3):296-303. doi: 10.1159/000524233. Epub 2022 Mar 29. Horm Res Paediatr. 2022. PMID: 35350016
INTRODUCTION: Congenital central hypothyroidism (CCH) is a rare disorder that can be caused by X-linked mutations in the immunoglobulin superfamily member 1 (IGSF1) gene. ...Furthermore, a maternal uncle was diagnosed with biochemical CCH at 34 years of age, despite having …
INTRODUCTION: Congenital central hypothyroidism (CCH) is a rare disorder that can be caused by X-linked mutations in the immunoglobul …
McCune-Albright syndrome presenting with unilateral macroorchidism and bilateral testicular masses.
Khanna G, Kantawala K, Shinawi M, Sarwate S, Dehner LP. Khanna G, et al. Pediatr Radiol. 2010 Dec;40 Suppl 1:S16-20. doi: 10.1007/s00247-010-1762-z. Epub 2010 Jul 6. Pediatr Radiol. 2010. PMID: 20607225
Bilateral synchronous intratesticular masses are rare but can be caused by metastatic disease to the testicle, primary testicular masses or benign etiologies such as congenital adrenal hyperplasia and granulomatous orchitis. We present an unusual case of McCune-Albright sy …
Bilateral synchronous intratesticular masses are rare but can be caused by metastatic disease to the testicle, primary testicular masses or …
The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular Growth.
Ghanny S, Zidell A, Pedro H, Joustra SD, Losekoot M, Wit JM, Aisenberg J. Ghanny S, et al. J Clin Res Pediatr Endocrinol. 2021 Nov 25;13(4):461-467. doi: 10.4274/jcrpe.galenos.2020.2020.0125. Epub 2020 Oct 13. J Clin Res Pediatr Endocrinol. 2021. PMID: 33045800 Free PMC article.
Our objective was to further expand the spectrum of clinical characteristics of the IGSF1 deficiency syndrome in affected males. These characteristic include almost universal congenital central hypothyroidism (CeH) with disharmonious pubertal development (normally timed te …
Our objective was to further expand the spectrum of clinical characteristics of the IGSF1 deficiency syndrome in affected males. These chara …
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