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46,XX aromatase deficiency: A single-center experience with the varied spectrum and recurrent variants, and a systematic review of hormonal parameters.
Yami Channaiah, Chethan; Memon, Saba Samad; Sarathi, Vijaya; Lila, Anurag Ranjan; Barnabas, Rohit; Raghav, Darpan; Bhandare, Vishwambhar V; Arya, Sneha; Thakkar, Hemangini; Patil, Virendra Ashokrao; Karlekar, Manjiri; Kunwar, Ambarish; Bandgar, Tushar.
Afiliação
  • Yami Channaiah C; Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, 400012 Mumbai, India.
  • Memon SS; Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, 400012 Mumbai, India.
  • Sarathi V; Department of Endocrinology, Vydehi Institute of Medical Sciences and Research Centre, 560066 Bengaluru, India.
  • Lila AR; Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, 400012 Mumbai, India. Electronic address: anuraglila@gmail.com.
  • Barnabas R; Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, 400012 Mumbai, India.
  • Raghav D; Department of Biosciences and Bioengineering, Indian Institute of Technology Bombay, Powai, Mumbai, India.
  • Bhandare VV; Department of Microbiology, Shivaji University, Kholhapur, India.
  • Arya S; Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, 400012 Mumbai, India.
  • Thakkar H; Department of Radiology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India.
  • Patil VA; Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, 400012 Mumbai, India.
  • Karlekar M; Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, 400012 Mumbai, India.
  • Kunwar A; Department of Biosciences and Bioengineering, Indian Institute of Technology Bombay, Powai, Mumbai, India.
  • Bandgar T; Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, 400012 Mumbai, India.
Ann Endocrinol (Paris) ; 85(1): 48-55, 2024 Feb.
Article em En | MEDLINE | ID: mdl-37348676
BACKGROUND: Aromatase deficiency is a rare disorder, with only a few cases reported in India. We describe a single-center experience in western India, with a systematic review of genetically proven 46,XX aromatase deficiency patients to evaluate hormonal parameters. METHODS: Retrospective review of case records, collating phenotypic and genotypic data and molecular modeling. Systematic review of 46,XX aromatase deficiency, analyzing data on gonadotropins, estrogen and androgens. RESULTS: In the seven patients from our center, presentation was frequent in childhood or adolescence (4/7: delayed puberty or hyperandrogenism), with maternal virilization (4/7), predominance of Prader III/IV (5/7), and initial rearing as females (6/7). Three patients had hypoplastic ovaries. One patient had spontaneous regular menses. We report three novel (p.Arg115Pro, p.Arg192Pro, and c.145+1_145+4delins) and two recurrent variants (p.Val370Met, and c.145+1_145+4delins) in western and northern India, respectively. On systematic review (n=43), gonadotropins were elevated (FSH>LH) across ages (except preterm infants), androgens were elevated in about one-third of cases during childhood and puberty, and estradiol was lower than in controls in mini-puberty and puberty. Spontaneous thelarche and streak ovaries were significantly more frequent in patients with non-truncating and truncating variants, respectively. CONCLUSION: We report uncommon presentations with possible founder variants, and highlight hormonal parameters across ages. Serum FSH levels were elevated except in preterms, and can be used as a diagnostic marker.
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Recém-Nascido Prematuro / Aromatase / Transtornos 46, XX do Desenvolvimento Sexual / Ginecomastia / Infertilidade Masculina / Erros Inatos do Metabolismo Tipo de estudo: Systematic_reviews Limite: Adolescent / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Ann Endocrinol (Paris) Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Índia

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Recém-Nascido Prematuro / Aromatase / Transtornos 46, XX do Desenvolvimento Sexual / Ginecomastia / Infertilidade Masculina / Erros Inatos do Metabolismo Tipo de estudo: Systematic_reviews Limite: Adolescent / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Ann Endocrinol (Paris) Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Índia