%0 Systematic Review
%T 46,XX aromatase deficiency: A single-center experience with the varied spectrum and recurrent variants, and a systematic review of hormonal parameters.
%A Yami Channaiah C
%A Memon SS
%A Sarathi V
%A Lila AR
%A Barnabas R
%A Raghav D
%A Bhandare VV
%A Arya S
%A Thakkar H
%A Patil VA
%A Karlekar M
%A Kunwar A
%A Bandgar T
%J Ann Endocrinol (Paris)
%V 85
%N 1
%D 2024 Feb 20
%M 37348676
%F 3.117
%R 10.1016/j.ando.2023.05.010
%X <B>BACKGROUND: </B>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.<BR><B>METHODS: </B>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.<BR><B>RESULTS: </B>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.<BR><B>CONCLUSIONS: </B>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.