Assessment of the gonadotrophin-gonadal axis in androgen insensitivity syndrome

Ahmed, SF; Cheng, Anna Wai-Fun; Hughes, Ieuan A.

doi:10.1136/adc.80.4.324

Cited by 88 publications

(64 citation statements)

References 30 publications

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“…For instance, while uLH:uCr concentration may have a role in distinguishing CPP from other forms of early puberty, 22,23 the uFSH:uCr assessment may be useful for identifying cases of germ cell failure such as primary ovarian failure and Sertoli cell dysfunction. [24][25][26] ULH:uFSH ratio may also be a useful parameter in cases of early puberty to differentiate between different forms of puberty, but this requires further exploration. In the current study, the groups of boys and girls studied had a wide range of pathologies and future studies should consider studying homogenous groups; standardizing the data for age and sex will also increase the utility of this tool.…”

Section: Discussionmentioning

confidence: 99%

The measurement of urinary gonadotropins for assessment and management of pubertal disorder

Lucaccioni

McNeilly

Mason

et al. 2016

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ObJECTIvE: measurement of urinary lh (ulh) and FSh (uFSh) may facilitate non-invasive pubertal assessment but there is a need for further validation by studying children and adolescents with disorders of puberty. DESIgN: 65 cases (male: 25) with a median age of 12 years (2.9-18.1) supplied at least one non-timed urine sample for uLH and uFSH measurement by immunoassay and corrected for creatinine excretion. 25 cases were receiving gnRh-agonist (gnRh-a) at the time of sample collection. In 41 cases, urine samples were collected prior to a lhRh test and in 12 cases matched serum samples for basal lh (slh) and FSh (sFSh) were also available. RESUlTS: There was a significant correlation between slh and ulh:uCr (r=0.82; p-value <0.001) and sFSH and uFSH:uCr (r=0.93; p-value <0.001). Based on receiver operator characteristics analysis, a ulh:uCr value of 0.05 IU/mmol as a cut-off would detect a lh peak >5U I/l with a sensitivity of 86% and a specificity of 72% with a positive predictive value of 93%. In pubertal boys (6) and girls (22)

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Section: Discussionmentioning

confidence: 99%

The measurement of urinary gonadotropins for assessment and management of pubertal disorder

Lucaccioni

McNeilly

Mason

et al. 2016

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“…In prepubertal children values are generally found in the normal range for age [23]. In contrast, little information is available during puberty [24]. The absence of neonatal LH and testosterone surge in patients with CAIS [1] implies that the functional AR is necessary during intrauterine or neonatal life for the normal transient rise in LH and testosterone in male infants.…”

Section: Discussionmentioning

confidence: 99%

Puberty in Subjects with Complete Androgen Insensitivity Syndrome

et al. 2006

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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.

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“…19 In patients with KD, partial androgen insensitivity frequently leads to high testosterone levels with elevated LH levels and hyper-responsiveness of LH to gonadotropin-releasing hormone as a possible sign of a larger stock of LH caused by a lack of suppressive effects of testosterone on the pituitary gland itself. 3,20 Furthermore, the suppressive effect of synthetic androgens on testosterone levels, LH, and FSH is reduced in patients with KD, which suggests a weakened effect of androgens on the pituitary gland as a possible cause.…”

Section: Discussionmentioning

confidence: 99%

Changes of Pituitary Gland Volume in Kennedy Disease

Pieper

Teismann²,

Konrad

et al. 2013

AJNR Am J Neuroradiol

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BACKGROUND AND PURPOSE:Kennedy disease is a rare X-linked neurodegenerative disorder caused by a CAG repeat expansion in the first exon of the androgen-receptor gene. Apart from neurologic signs, this mutation can cause a partial androgen insensitivity syndrome with typical alterations of gonadotropic hormones produced by the pituitary gland. The aim of the present study was therefore to evaluate the impact of Kennedy disease on pituitary gland volume under the hypothesis that endocrinologic changes caused by partial androgen insensitivity may lead to morphologic changes (ie, hypertrophy) of the pituitary gland.

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Assessment of the gonadotrophin-gonadal axis in androgen insensitivity syndrome

Abstract: Objective-To study the value of measuring serum luteinising hormone (LH), follicle stimulating hormone (FSH), testosterone, and dihydrotestosterone (DHT) in androgen insensitivity syndrome (AIS). (Arch Dis Child 1999;80:324-329)

Cited by 88 publications

References 30 publications

The measurement of urinary gonadotropins for assessment and management of pubertal disorder

The measurement of urinary gonadotropins for assessment and management of pubertal disorder

Puberty in Subjects with Complete Androgen Insensitivity Syndrome

Changes of Pituitary Gland Volume in Kennedy Disease

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