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Quoted phrase not found in phrase index: "Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome"
Page 1
Klinefelter syndrome, insulin resistance, metabolic syndrome, and diabetes: review of literature and clinical perspectives.
Salzano A, D'Assante R, Heaney LM, Monaco F, Rengo G, Valente P, Pasquali D, Bossone E, Gianfrilli D, Lenzi A, Cittadini A, Marra AM, Napoli R. Salzano A, et al. Endocrine. 2018 Aug;61(2):194-203. doi: 10.1007/s12020-018-1584-6. Epub 2018 Mar 23. Endocrine. 2018. PMID: 29572708 Review.
PURPOSE: Klinefelter syndrome (KS), the most frequent chromosomic abnormality in males, is associated with hypergonadotropic hypogonadism and an increased risk of cardiovascular diseases (CVD). ...METHODS: We searched PubMed, Web of Science, and Scopus for manuscrip …
PURPOSE: Klinefelter syndrome (KS), the most frequent chromosomic abnormality in males, is associated with hypergonadotropic h …
The child with micropenis.
Menon PS, Khatwa UA. Menon PS, et al. Indian J Pediatr. 2000 Jun;67(6):455-60. doi: 10.1007/BF02859468. Indian J Pediatr. 2000. PMID: 10932967
Based on etiology they can be classified as hypogonadotropic hypogonadism (hypothalamic or pituitary failure), hypergonadotropic hypogonadism (testicular failure), partial androgen insensitivity syndrome and idiopathic groups. ...Often the diagnosis is inferred by t …
Based on etiology they can be classified as hypogonadotropic hypogonadism (hypothalamic or pituitary failure), hypergonadotropic hypo …
Muscle pathology in Marinesco-Sjogren syndrome.
Komiyama A, Nonaka I, Hirayama K. Komiyama A, et al. J Neurol Sci. 1989 Jan;89(1):103-13. doi: 10.1016/0022-510x(89)90010-5. J Neurol Sci. 1989. PMID: 2522540
Three of 4 adult patients with Marinesco-Sjogren syndrome (MSS; 2 males and 2 females, aged 26-31 years) in 2 families became non-ambulant because of slowly progressive muscular weakness rather than cerebellar ataxia. Other clinical features in these 4 patients were typica …
Three of 4 adult patients with Marinesco-Sjogren syndrome (MSS; 2 males and 2 females, aged 26-31 years) in 2 families became non-amb …
Clinical Peculiarities in a Cohort of Patients with Wolfram Syndrome 1.
Salzano G, Rigoli L, Valenzise M, Chimenz R, Passanisi S, Lombardo F. Salzano G, et al. Int J Environ Res Public Health. 2022 Jan 4;19(1):520. doi: 10.3390/ijerph19010520. Int J Environ Res Public Health. 2022. PMID: 35010780 Free PMC article.
Wolfram syndrome 1 is a rare, autosomal recessive, neurodegenerative, progressive disorder. ...Other endocrine findings included hypogonadotropic hypogonadism (7.1%), hypergonadotropic hypogonadism (7.1%), and Hashimoto's thyroiditis (21.4%). ...
Wolfram syndrome 1 is a rare, autosomal recessive, neurodegenerative, progressive disorder. ...Other endocrine findings included hypo …
Testicular parenchymal abnormalities in Klinefelter syndrome: a question of cancer? Examination of 40 consecutive patients.
Accardo G, Vallone G, Esposito D, Barbato F, Renzullo A, Conzo G, Docimo G, Esposito K, Pasquali D. Accardo G, et al. Asian J Androl. 2015 Jan-Feb;17(1):154-8. doi: 10.4103/1008-682X.128514. Asian J Androl. 2015. PMID: 25130577 Free PMC article.
Klinefelter syndrome (KS) is a hypergonadotropic hypogonadism characterized by a 47, XXY karyotype. ...
Klinefelter syndrome (KS) is a hypergonadotropic hypogonadism characterized by a 47, XXY karyotype. ...
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 …
Silver-Russell syndrome. Observations in 20 patients.
Angehrn V, Zachmann M, Prader A. Angehrn V, et al. Helv Paediatr Acta. 1979 Sep;34(4):297-308. Helv Paediatr Acta. 1979. PMID: 521296
The growth and development data of 20 patients with the Silver-Russell syndrome (14 boys, 6 girls) were analyzed. Family history, pregnancy and delivery did not reveal any significant anomalies. ...It is concluded that 1. the growth pattern in Silver-Russell synd …
The growth and development data of 20 patients with the Silver-Russell syndrome (14 boys, 6 girls) were analyzed. Family history, pre …