BACKGROUND: Androgen receptor defects affect the regulation of the gonadotropic axis. However, little is known about the timing of pubertal maturation in complete androgen insensitivity syndrome (CAIS). AIMS: To evaluate growth, skeletal maturation and gonadotropin and sex steroid secretion in patients with CAIS and intact gonads at puberty. METHODS: Clinical, auxological and hormonal evaluation of 9 patients with CAIS from birth up to 17 years of age, prior to gonadectomy, in a single institution, retrospective study. RESULTS: Breast development occurred at a median age of 11.1 years, thumb sesamoid appeared at 11.5 years, and peak height velocity at 12.3 years, all consistent with average female values. However, median adult male height (+1.2 SDS) was closer to the patients' male target height (-0.3 SDS). Plasma testosterone levels rose early compared to normal boys. LH (basal and GnRH-stimulated) increased rapidly, above normal male values, in early puberty. CONCLUSIONS: This retrospective evaluation of a limited number of cases with a heterogeneous pattern of follow-up suggests that patients with CAIS may enter puberty at an age closer to female standards. These results imply a major role of direct androgen action, in utero or in early life, in determining the pattern of pubertal gonadotropin maturation.
BACKGROUND:Androgen receptor defects affect the regulation of the gonadotropic axis. However, little is known about the timing of pubertal maturation in complete androgen insensitivity syndrome (CAIS). AIMS: To evaluate growth, skeletal maturation and gonadotropin and sex steroid secretion in patients with CAIS and intact gonads at puberty. METHODS: Clinical, auxological and hormonal evaluation of 9 patients with CAIS from birth up to 17 years of age, prior to gonadectomy, in a single institution, retrospective study. RESULTS: Breast development occurred at a median age of 11.1 years, thumb sesamoid appeared at 11.5 years, and peak height velocity at 12.3 years, all consistent with average female values. However, median adult male height (+1.2 SDS) was closer to the patients' male target height (-0.3 SDS). Plasma testosterone levels rose early compared to normal boys. LH (basal and GnRH-stimulated) increased rapidly, above normal male values, in early puberty. CONCLUSIONS: This retrospective evaluation of a limited number of cases with a heterogeneous pattern of follow-up suggests that patients with CAIS may enter puberty at an age closer to female standards. These results imply a major role of direct androgen action, in utero or in early life, in determining the pattern of pubertal gonadotropin maturation.
Authors: A Nordenström; S F Ahmed; E van den Akker; J Blair; M Bonomi; C Brachet; L H A Broersen; H L Claahsen-van der Grinten; A B Dessens; A Gawlik; C H Gravholt; A Juul; C Krausz; T Raivio; A Smyth; P Touraine; D Vitali; O M Dekkers Journal: Eur J Endocrinol Date: 2022-04-21 Impact factor: 6.558
Authors: Lucia Lanciotti; Marta Cofini; Alberto Leonardi; Mirko Bertozzi; Laura Penta; Susanna Esposito Journal: Int J Environ Res Public Health Date: 2019-04-09 Impact factor: 3.390
Authors: Lidewij Sophia Boogers; Chantal Maria Wiepjes; Daniel Tatting Klink; Ilse Hellinga; Adrianus Sarinus Paulus van Trotsenburg; Martin den Heijer; Sabine Elisabeth Hannema Journal: J Clin Endocrinol Metab Date: 2022-08-18 Impact factor: 6.134
Authors: Sahra Steinmacher; Sara Y Brucker; Andrina Kölle; Bernhard Krämer; Dorit Schöller; Katharina Rall Journal: Int J Environ Res Public Health Date: 2021-05-25 Impact factor: 3.390
Authors: D T Papadimitriou; E Dermitzaki; M Papagianni; G Papaioannou; V Papaevangelou; A Papadimitriou Journal: J Endocrinol Invest Date: 2015-10-27 Impact factor: 4.256