OBJECTIVE: To describe the natural history of phenotype, growth and gonadal function in patients with partial androgen insensitivity syndrome. SETTING: Tertiary paediatric endocrine centre. METHODS: Retrospective evaluation of 14 male patients with partial androgen insensitivity syndrome (PAIS) with verified androgen receptor (AR) mutations. The authors recorded phenotypic characteristics at birth and external masculinisation score (EMS), registered longitudinal growth, circulating levels of testosterone, estradiol, luteinising hormone (LH), follicle-stimulating hormone (FSH), inhibin-B and sex hormone binding globulin (SHBG), in addition to phenotype at postpubertal follow up. RESULTS: The EMS ranged from 5 to 12 in PAIS at birth. Six patients were born with hypospadias and all patients developed gynaecomastia in puberty. Eight of the patients received testosterone treatment. At follow-up penile size was impaired irrespective of EMS at birth, but responded to pubertal androgen therapy in some of the patients. Serum levels of testosterone, estradiol, SHBG and LH, but not FSH and inhibin B, were markedly elevated in puberty. Final height was 181.3 cm (165.7-190.5 cm) corresponding to an SD score of 0.7 (-2.1 to +2.1 SD, n=10). CONCLUSION: Gynaecomastia and impaired phallic growth are frequently observed in adults with PAIS, but may be ameliorated by androgen therapy. The authors suggest that male patients presenting with gynaecomastia in puberty, and elevated circulating levels of testosterone, estradiol and LH in puberty, but normal FSH, should be suspected of having PAIS and undergo genetic testing for AR mutations.
OBJECTIVE: To describe the natural history of phenotype, growth and gonadal function in patients with partial androgen insensitivity syndrome. SETTING: Tertiary paediatric endocrine centre. METHODS: Retrospective evaluation of 14 male patients with partial androgen insensitivity syndrome (PAIS) with verified androgen receptor (AR) mutations. The authors recorded phenotypic characteristics at birth and external masculinisation score (EMS), registered longitudinal growth, circulating levels of testosterone, estradiol, luteinising hormone (LH), follicle-stimulating hormone (FSH), inhibin-B and sex hormone binding globulin (SHBG), in addition to phenotype at postpubertal follow up. RESULTS: The EMS ranged from 5 to 12 in PAIS at birth. Six patients were born with hypospadias and all patients developed gynaecomastia in puberty. Eight of the patients received testosterone treatment. At follow-up penile size was impaired irrespective of EMS at birth, but responded to pubertal androgen therapy in some of the patients. Serum levels of testosterone, estradiol, SHBG and LH, but not FSH and inhibin B, were markedly elevated in puberty. Final height was 181.3 cm (165.7-190.5 cm) corresponding to an SD score of 0.7 (-2.1 to +2.1 SD, n=10). CONCLUSION:Gynaecomastia and impaired phallic growth are frequently observed in adults with PAIS, but may be ameliorated by androgen therapy. The authors suggest that male patients presenting with gynaecomastia in puberty, and elevated circulating levels of testosterone, estradiol and LH in puberty, but normal FSH, should be suspected of having PAIS and undergo genetic testing for AR mutations.
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: Samiran Das; Uma K Saikia; Kandarpa K Saikia; Dipti Sarma; Bipul K Choudhury; Ashok K Bhuyan; Abhamoni Baro; Darvin V Das; Sonali Appaiah Journal: Indian J Endocrinol Metab Date: 2020-08-27
Authors: Anders Juul; Kristian Almstrup; Anna-Maria Andersson; Tina K Jensen; Niels Jørgensen; Katharina M Main; Ewa Rajpert-De Meyts; Jorma Toppari; Niels E Skakkebæk Journal: Nat Rev Endocrinol Date: 2014-06-17 Impact factor: 43.330
Authors: Tina Harmer Lassen; Hanne Frederiksen; Tina Kold Jensen; Jørgen Holm Petersen; Ulla N Joensen; Katharina M Main; Niels E Skakkebaek; Anders Juul; Niels Jørgensen; Anna-Maria Andersson Journal: Environ Health Perspect Date: 2014-05-01 Impact factor: 9.031
Authors: A Lucas-Herald; S Bertelloni; A Juul; J Bryce; J Jiang; M Rodie; R Sinnott; M Boroujerdi; M Lindhardt Johansen; O Hiort; P M Holterhus; M Cools; G Guaragna-Filho; G Guerra-Junior; N Weintrob; S Hannema; S Drop; T Guran; F Darendeliler; A Nordenstrom; I A Hughes; C Acerini; R Tadokoro-Cuccaro; S F Ahmed Journal: J Clin Endocrinol Metab Date: 2016-07-12 Impact factor: 5.958