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Quoted phrase not found in phrase index: "Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome"
Page 1
Pattern of Male Hypogonadism and Outcome of Treatment in South Rajasthan.
Sharma KR, Sharma H, Vishnoi J, Sharma RK, Goel S. Sharma KR, et al. J Assoc Physicians India. 2022 Apr;70(4):11-12. J Assoc Physicians India. 2022. PMID: 35443335
Male reproductive functions are governed by hypothalamic pituitary testicular axis. ...Group A (n=42) cases were hypergonadotropic hypogonadism or primary testicular failure; of these 32 were Klinefelter syndrome (XXY), 7 chronic orchitis and 3 empty scrotal …
Male reproductive functions are governed by hypothalamic pituitary testicular axis. ...Group A (n=42) cases were hypergonadotropic …
New case of Primrose syndrome with mild intellectual disability.
Posmyk R, Leśniewicz R, Chorąży M, Wołczyński S. Posmyk R, et al. Am J Med Genet A. 2011 Nov;155A(11):2838-40. doi: 10.1002/ajmg.a.34257. Epub 2011 Sep 9. Am J Med Genet A. 2011. PMID: 21910247
We report on a 27-year-old man, who represents the sixth and the youngest published case of Primrose syndrome. Primrose syndrome (PS) (OMIM#295090) is an extremely rare entity of unknown etiology characterized by the progressive wasting of distal muscles of the legs …
We report on a 27-year-old man, who represents the sixth and the youngest published case of Primrose syndrome. Primrose syndrome …
Linkage studies on Marinesco-Sjogren syndrome and hypergonadotropic hypogonadism.
Skre H, Berg K. Skre H, et al. Clin Genet. 1977 Jan;11(1):57-66. doi: 10.1111/j.1399-0004.1977.tb01279.x. Clin Genet. 1977. PMID: 830450
Marinesco-Sjogren syndrome and hypergonadotropic hypogonadism were observed in two kindreds, and they were found to occur togetherin 9 out of 10 affected individuals. ...On the hypothesis that the concurrence of Marinesco-Sjogren syndrome and hyperg …
Marinesco-Sjogren syndrome and hypergonadotropic hypogonadism were observed in two kindreds, and they were found to occ …
A new look at XXYY syndrome: medical and psychological features.
Tartaglia N, Davis S, Hench A, Nimishakavi S, Beauregard R, Reynolds A, Fenton L, Albrecht L, Ross J, Visootsak J, Hansen R, Hagerman R. Tartaglia N, et al. Am J Med Genet A. 2008 Jun 15;146A(12):1509-22. doi: 10.1002/ajmg.a.32366. Am J Med Genet A. 2008. PMID: 18481271 Free PMC article.
XXYY syndrome occurs in approximately 1:18,000-1:40,000 males. Although the physical phenotype is similar to 47,XXY (tall stature, hypergonadotropic hypogonadism, and infertility), XXYY is associated with additional medical problems and more significant neurodevelop …
XXYY syndrome occurs in approximately 1:18,000-1:40,000 males. Although the physical phenotype is similar to 47,XXY (tall stature, …
Vanishing testes syndrome-related osteoporosis and high cardio-metabolic risk in an adult male with long term untreated hypergonadotropic hypogonadism.
Carsote M, Capatina C, Valea A, Dumitrascu A. Carsote M, et al. Arch Endocrinol Metab. 2016 Feb;60(1):79-84. doi: 10.1590/2359-3997000000127. Arch Endocrinol Metab. 2016. PMID: 26909487 Free PMC article.
The male hypogonadism-related bone mass loss is often under diagnosed. ...Abdominal computed tomography suggested bilateral masses of 1.6 cm diameter within the abdominal fat that were removed but no gonadal tissue was confirmed histopathologically. Vanishing testes syn …
The male hypogonadism-related bone mass loss is often under diagnosed. ...Abdominal computed tomography suggested bilateral masses of …
Genital malformation: Trigger of the diagnosis of severe variants of Klinefelter syndrome.
Fadil Iturralde JL, Marani J, Lahoz García M, Carbognani S, Luccerini V, Damiani HJ, Contardi JC. Fadil Iturralde JL, et al. Rev Chil Pediatr. 2020 Feb;91(1):111-115. doi: 10.32641/rchped.v91i2.1260. Epub 2019 Dec 3. Rev Chil Pediatr. 2020. PMID: 32730421 Free article. English, Spanish.
INTRODUCTION: Among the disorders of sexual development, Klinefelter syndrome and its variants are classified as an alteration in the number of sex chromosomes. ...No other somatic abnormality was observed, except for subtle clinodactyly of the fifth finger. Karyoty …
INTRODUCTION: Among the disorders of sexual development, Klinefelter syndrome and its variants are classified as an alteration in the …
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy.
Mendelsohn BA, Beleford DT, Abu-El-Haija A, Alsaleh NS, Rahbeeni Z, Martin PM, Rego S, Huang A, Capodanno G, Shieh JT, Van Ziffle J, Risch N, Alkuraya FS, Slavotinek AM. Mendelsohn BA, et al. Am J Med Genet A. 2020 Mar;182(3):513-520. doi: 10.1002/ajmg.a.61450. Epub 2019 Dec 27. Am J Med Genet A. 2020. PMID: 31880405 Free PMC article.
Interestingly, the patient's mother had short stature and 100% skewed X-inactivation as seen in other obligate female carriers. A second male with developmental delays, microcephaly, seizures, ambiguous genitalia, and facial anomalies that included sparse and brittl …
Interestingly, the patient's mother had short stature and 100% skewed X-inactivation as seen in other obligate female carriers. A second …
49,XXXXY syndrome with autoimmune diabetes and ocular manifestations.
Pamuk BO, Torun AN, Kulaksizoglu M, Algan C, Ertugrul DT, Yilmaz Z, Tutuncu NB, Demirag NG. Pamuk BO, et al. Med Princ Pract. 2009;18(6):482-5. doi: 10.1159/000235899. Epub 2009 Sep 30. Med Princ Pract. 2009. PMID: 19797926 Free article.
CLINICAL PRESENTATION AND INTERVENTION: A 25-year-old man with mental retardation presented with multiple skeletal abnormalities, polyuria and polydipsia. He had high glucose concentrations, without ketonuria, and hypergonadotropic hypogonadism. ...Intensive insulin …
CLINICAL PRESENTATION AND INTERVENTION: A 25-year-old man with mental retardation presented with multiple skeletal abnormalities, pol …
Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies.
Zeidler C, Woelfle J, Draaken M, Mughal SS, Große G, Hilger AC, Dworschak GC, Boemers TM, Jenetzky E, Zwink N, Lacher M, Schmidt D, Schmiedeke E, Grasshoff-Derr S, Märzheuser S, Holland-Cunz S, Schäfer M, Bartels E, Keppler K, Palta M, Leonhardt J, Kujath C, Rißmann A, Nöthen MM, Reutter H, Ludwig M. Zeidler C, et al. Birth Defects Res A Clin Mol Teratol. 2014 Oct;100(10):750-9. doi: 10.1002/bdra.23278. Epub 2014 Aug 8. Birth Defects Res A Clin Mol Teratol. 2014. PMID: 25131394
RESULTS: We identified two heterozygous FGF8 mutations in patients displaying either VATER/VACTERL association (p.Gly29_Arg34dup) or a VATER/VACTERL-like phenotype (p.Pro26Leu) without limb anomalies. Whereas the duplication mutation has not been reported before, p.Pro26Le …
RESULTS: We identified two heterozygous FGF8 mutations in patients displaying either VATER/VACTERL association (p.Gly29_Arg34dup) or a VATER …
A new variant in signal peptide of the human luteinizing hormone receptor (LHCGR) affects receptor biogenesis causing leydig cell hypoplasia.
Vezzoli V, Duminuco P, Vottero A, Kleinau G, Schülein R, Minari R, Bassi I, Bernasconi S, Persani L, Bonomi M. Vezzoli V, et al. Hum Mol Genet. 2015 Nov 1;24(21):6003-12. doi: 10.1093/hmg/ddv313. Epub 2015 Aug 5. Hum Mol Genet. 2015. PMID: 26246498 Free article.
Testis biopsy showed profound LCH and absent germinal line elements (Sertoli-only syndrome). The sequence analysis of the LHCGR gene showed the presence of a compound heterozygosity, being one variation, c.1847C>A p.S616Y, already described in association to Hypergon …
Testis biopsy showed profound LCH and absent germinal line elements (Sertoli-only syndrome). The sequence analysis of the LHCGR gene …
12 results