دورية أكاديمية
أعرض في EDS

Steroidogenic acute regulatory protein (STAR) deficiency: Our experience and systematic review for phenotype-genotype correlation.

التفاصيل البيبلوغرافية
العنوان: Steroidogenic acute regulatory protein (STAR) deficiency: Our experience and systematic review for phenotype-genotype correlation.
المؤلفون: Phadte A; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India., Dhole C; Department of Endocrinology, Topiwala National Medical College and BYL Nair Charitable Hospital, Mumbai, India., Hegishte S; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India., Sarathi V; Department of Endocrinology, Vydehi Institute of Medical Sciences and Research Centre, Bangalore, India., Lila A; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India., Gada JV; Department of Endocrinology, Topiwala National Medical College and BYL Nair Charitable Hospital, Mumbai, India., Memon SS; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India., Arya S; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India., Karlekar M; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India., Patil V; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India., Varthakavi PK; Department of Endocrinology, Topiwala National Medical College and BYL Nair Charitable Hospital, Mumbai, India., Shah N; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India., Bhagwat NM; Department of Endocrinology, Topiwala National Medical College and BYL Nair Charitable Hospital, Mumbai, India., Bandgar T; Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India.
المصدر: Clinical endocrinology [Clin Endocrinol (Oxf)] 2024 May; Vol. 100 (5), pp. 431-440. Date of Electronic Publication: 2024 Feb 18.
نوع المنشور: Systematic Review; Journal Article
اللغة: English
بيانات الدورية: Publisher: Blackwell Publishing Country of Publication: England NLM ID: 0346653 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2265 (Electronic) Linking ISSN: 03000664 NLM ISO Abbreviation: Clin Endocrinol (Oxf) Subsets: MEDLINE
أسماء مطبوعة: Publication: <2003->: Oxford : Blackwell Publishing
Original Publication: Oxford, Blackwell Scientific Publications.
مواضيع طبية MeSH: Adrenal Hyperplasia, Congenital*/diagnosis , Disorder of Sex Development, 46,XY*, Adolescent ; Humans ; Male ; Female ; Mutation/genetics ; Phosphoproteins/genetics ; Phosphoproteins/metabolism ; Phenotype ; Genotype
مستخلص: Objective: Lipoid congenital adrenal hyperplasia (LCAH) is caused by mutations in STAR. A systematic review of phenotype-genotype correlation and data on testicular histology in LCAH patients is unavailable. We aim to describe our experience and provide phenotype-genotype correlation. DESIGN, PATIENTS AND MEASUREMENTS: Retrospective review of three genetically proven LCAH patients from our centre and per-patient data analysis from a systematic review of 292 probands. The phenotypic subgroups of 46,XY were Group A (typical female genitalia), Group B (atypical genitalia) and Group C (typical male genitalia).
Results: We report three new LCAH probands from India, all diagnosed post-infancy with preserved gonadal function and one novel variant. The systematic review reports 46,XY to 46,XX LCAH ratio of 1.1 (155:140). Patients with 46,XY LCAH in Group A were diagnosed in infancy (116/117) and had higher mineralocorticoid involvement than Group C (96.4% vs. 75%, p = 0.035), whereas Group C had preserved gonadal function. Hyperplastic adrenals are noted in ~60% of LCAH diagnosed with primary adrenal insufficiency in infancy. There was no report of gonadal germ cell cancer and rare reports of germ cell neoplasia in situ in adolescents, especially with intraabdominal gonads. Two-thirds of LCAH probands were East-Asian and 11/16 regional recurrent variants were from East Asia. There was minimal overlap between variants in Groups A (n = 55), B (n = 9) and C (n = 8). All nonsense and frameshift and most of the splice-site variants and deletion/insertions were present in Group A.
Conclusions: We report three new cases of LCAH from India. We propose a phenotype-derived genotypic classification of reported STAR variants in 46,XY LCAH.
(© 2024 John Wiley & Sons Ltd.)
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فهرسة مساهمة: Keywords: LCAH; STAR; gonadal function; lipoid adrenal hyperplasia; steroidogenic acute regulatory protein deficiency
المشرفين على المادة: 0 (steroidogenic acute regulatory protein)
0 (Phosphoproteins)
SCR Disease Name: Lipoid congenital adrenal hyperplasia
تواريخ الأحداث: Date Created: 20240218 Date Completed: 20240408 Latest Revision: 20240408
رمز التحديث: 20240408
DOI: 10.1111/cen.15032
PMID: 38368602
قاعدة البيانات: MEDLINE
الوصف
تدمد:1365-2265
DOI:10.1111/cen.15032