دورية أكاديمية
أعرض في EDS

Genetic spectrum and predictors of mutations in four known genes in Asian Indian patients with growth hormone deficiency and orthotopic posterior pituitary: an emphasis on regional genetic diversity.

التفاصيل البيبلوغرافية
العنوان: Genetic spectrum and predictors of mutations in four known genes in Asian Indian patients with growth hormone deficiency and orthotopic posterior pituitary: an emphasis on regional genetic diversity.
المؤلفون: Kale S; Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Parel, Mumbai, Maharashtra, 400012, India., Gada JV; Department of Endocrinology, Topiwala National Medical College and BYL Nair Hospital, Mumbai, Maharashtra, India., Jadhav S; Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Parel, Mumbai, Maharashtra, 400012, India., Lila AR; Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Parel, Mumbai, Maharashtra, 400012, India., Sarathi V; Department of Endocrinology, Vydehi Institute of Medical Sciences and Research Center, Bangalore, Karnataka, India., Budyal S; Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Parel, Mumbai, Maharashtra, 400012, India., Patt H; Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Parel, Mumbai, Maharashtra, 400012, India., Goroshi MR; Department of Medicine, J N Medical College, Belgaum, Karnataka, India., Thadani PM; Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Parel, Mumbai, Maharashtra, 400012, India., Arya S; Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Parel, Mumbai, Maharashtra, 400012, India., Kamble AA; Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Parel, Mumbai, Maharashtra, 400012, India., Patil VA; Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Parel, Mumbai, Maharashtra, 400012, India. viru.patil33@gmail.com., Acharya S; Department of Endocrinology, K S Hegde Medical Academy, Mangalore, Karnataka, India., Sankhe S; Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Parel, Mumbai, Maharashtra, 400012, India., Shivane V; Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Parel, Mumbai, Maharashtra, 400012, India., Raghavan V; Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Parel, Mumbai, Maharashtra, 400012, India., Bandgar TR; Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Parel, Mumbai, Maharashtra, 400012, India., Shah NS; Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Parel, Mumbai, Maharashtra, 400012, India.
المصدر: Pituitary [Pituitary] 2020 Dec; Vol. 23 (6), pp. 701-715.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Kluwer Academic Publishers Country of Publication: United States NLM ID: 9814578 Publication Model: Print Cited Medium: Internet ISSN: 1573-7403 (Electronic) Linking ISSN: 1386341X NLM ISO Abbreviation: Pituitary Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Norwell, MA : Kluwer Academic Publishers, 1998-
مواضيع طبية MeSH: Dwarfism, Pituitary/*genetics , Mutation/*genetics, Adult ; Asian People ; Biomarkers ; Female ; Humans ; Insulin-Like Growth Factor I/metabolism ; Machine Learning ; Magnetic Resonance Imaging ; Male ; Middle Aged
مستخلص: Context: Regional variation in prevalence of genetic mutations in growth hormone deficiency (GHD) is known.
Aim: Study phenotype and prevalence of mutations in GH1, GHRHR, POU1F1, PROP1 genes in GHD cohort.
Methods: One hundred and two patients {Isolated GHD (IGHD): 79; combined pituitary hormone deficiency (CPHD): 23} with orthotopic posterior pituitary were included. Auxologic, hormonal and radiological details were studied. All four genes were analysed in IGHD patients. POU1F1 and PROP1 were studied in CPHD patients.
Results: Of 102, 19.6% were familial cases. Height SDS, mean (SD) was - 5.14 (1.63). Peak GH, median (range) was 0.47 ng/ml (0-6.59), 72.5% patients had anterior pituitary hypoplasia (APH). Twenty mutations (novel: 11) were found in 43.1% patients (n = 44, IGHD-36, CPHD-8). GHRHR mutations (n = 32, p.Glu72* = 24) were more common than GH1 mutations (n = 4) in IGHD cohort. POU1F1 mutations (n = 6) were more common than PROP1 mutations (n = 2) in CPHD cohort. With few exceptions, this prevalence pattern is contrary to most studies in world-literature. No patients with peak GH > 4 ng/ml had mutations, signifying it as negative predictor. While many parameters were significant on univariate analysis, only positive family history and lower median peak GH levels were significant predictors of mutations on multivariate analysis in IGHD patients.
Conclusion: At variance with world literature, we found reverse predominance of GHRHR over GH1 mutations, POU1F1 over PROP1 mutations and predominance of GHRHR p.Glu72* mutations thus re-affirming the regional diversity in GHD genetics. We report positive and negative predictors of mutations in GHD.
فهرسة مساهمة: Keywords: Combined pituitary hormone deficiency (CPHD); GH1; GHRHR; Isolated growth hormone deficiency (IGHD); POU1FI; PROP1; Regional diversity; Short stature
المشرفين على المادة: 0 (Biomarkers)
67763-96-6 (Insulin-Like Growth Factor I)
تواريخ الأحداث: Date Created: 20200907 Date Completed: 20211006 Latest Revision: 20221207
رمز التحديث: 20231215
DOI: 10.1007/s11102-020-01078-4
PMID: 32894409
قاعدة البيانات: MEDLINE
الوصف
تدمد:1573-7403
DOI:10.1007/s11102-020-01078-4