Increased psychiatric morbidity in women with complete androgen insensitivity syndrome or complete gonadal dysgenesis

ObjectivesTo compare bone mineral density (BMD) and body proportions between women with complete androgen insensitivity syndrome (CAIS) and with gonadal dysgenesis (GD).SettingAdult Disorders of Sexual Development and Ovarian Failure Clinics at University College London Hospitals.DesignRetrospective cross-sectional study of three groups of women aged 17–58 years with varying degrees of exposure to sex hormones and different combinations of sex chromosomes. Forty-six subjects had CAIS, 18 had GD and 46,XY (GD(XY)), and 25 had GD and 46,XX (GD(XX)). In addition, body proportions of subgroups of these women were analysed.Outcome measuresOestrogen therapy, karyotype, anthropometry and BMD.ResultsHeight differed between groups (F ratio 5.2, P=0.007)), with GD(XX) women being the shortest (mean±s.d.: 1.66±0.10 m), GD(XY) women the tallest (1.74±0.09 m) and CAIS women were in-between (1.70±0.07 m). Delayed gonadectomy resulted in taller stature in CAIS women (P=0.011). The ratio of lower to upper body length in GD(XY) women was significantly (P=0.001) greater than that of CAIS women. Multivariate logistic regression analysis (adjusted for age and height) showed that among women with XY karyotype, GD(XY) women were 5.2 times (95% confidence interval (CI): 1.3–20.1, P=0.018) more likely than CAIS women to have a low hip BMD. This difference was not evident among women with GD of different karyotypes (P=0.938). Spinal BMD did not differ between subject groups. Further adjustment for oestrogen replacement did not alter these relationships.ConclusionsTaller stature in late gonadectomised CAIS women suggests an oestrogen deficiency in these women prior to gonadectomy. Increased lower to upper body ratio in GD(XY) women compared with the other groups implies that these subjects have the greatest degree of oestrogen deficiency in puberty. Androgen rather than sex chromosomes may play an important role in cortical bone mineralisation in CAIS women, probably via estrogen receptor-α either directly or via aromatisation during critical periods of growth prior to gonadectomy.

Download Full-text

Malignant Leydig Cell Tumor in Elderly Complete Androgen Insensitivity Patient: A Case Report

Journal of Nepal Medical Association ◽

10.31729/jnma.4206 ◽

2019 ◽

Vol 57 (216) ◽

Author(s):

Sundar Shrestha ◽

Niroj Banepali ◽

Rakesh Sthapit ◽

Dipesh Agrawal

Keyword(s):

Leydig Cell ◽

Gonadal Dysgenesis ◽

Dehydrogenase Deficiency ◽

Androgen Insensitivity Syndrome ◽

Cell Tumour ◽

Primary Amenorrhea ◽

Complete Androgen Insensitivity Syndrome ◽

Androgen Insensitivity ◽

Sertoli Cell Tumour ◽

Leydig Cell Tumour

There are various cause of Primary amenorrhea in phenotypically females such as, complete androgen insensitivity syndrome, pure gonadal dysgenesis, 17b-hydroxysteroid dehydrogenase deficiency, or mixed gonadal dysgenesis. Primary amenorrhea in a phenotypically female is commonly encountered in Androgen insensitivity syndrome. In patients of AIS with intra-abdominal testis there is high chances of developing testicular tumour, among them Sertoli cell tumour and seminoma being the most common types. Leydig cell tumour in AIS is very rare and malignant leydig cell tumour is even further rarer. There are few case reported in the literatures of malignant leydig cell tumour with complete androgen insensitivity. Here we are reporting a case of 65 years married elderly patient with malignant leydig cell tumour with CAIS.

Download Full-text

Complete androgen insensitivity syndrome and breastfeeding

Endocrine Abstracts ◽

10.1530/endoabs.48.we1 ◽

2017 ◽

Author(s):

Gemma Fraterrigo ◽

William Drake

Keyword(s):

Androgen Insensitivity Syndrome ◽

Complete Androgen Insensitivity Syndrome ◽

Androgen Insensitivity

Download Full-text

Faculty Opinions recommendation of Long-term followup and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndrome.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1126902.584011 ◽

2008 ◽

Author(s):

Bradley Kropp

Keyword(s):

Androgen Insensitivity Syndrome ◽

Complete Androgen Insensitivity Syndrome ◽

Androgen Insensitivity

Download Full-text

Complete Androgen Insensitivity Syndrome: From Bench to Bed

International Journal of Molecular Sciences ◽

10.3390/ijms22031264 ◽

2021 ◽

Vol 22 (3) ◽

pp. 1264

Author(s):

Nina Tyutyusheva ◽

Ilaria Mancini ◽

Giampiero Igli Baroncelli ◽

Sofia D’Elios ◽

Diego Peroni ◽

...

Keyword(s):

Receptor Gene ◽

Hormone Replacement ◽

Basic Research ◽

Well Being ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Primary Amenorrhea ◽

Complete Androgen Insensitivity Syndrome ◽

Androgen Insensitivity

Complete androgen insensitivity syndrome (CAIS) is due to complete resistance to the action of androgens, determining a female phenotype in persons with a 46,XY karyotype and functioning testes. CAIS is caused by inactivating mutations in the androgen receptor gene (AR). It is organized in eight exons located on the X chromosome. Hundreds of genetic variants in the AR gene have been reported in CAIS. They are distributed throughout the gene with a preponderance located in the ligand-binding domain. CAIS mainly presents as primary amenorrhea in an adolescent female or as a bilateral inguinal/labial hernia containing testes in prepubertal children. Some issues regarding the management of females with CAIS remain poorly standardized (such as the follow-up of intact testes, the timing of gonadal removal and optimal hormone replacement therapy). Basic research will lead to the consideration of new issues to improve long-term well-being (such as bone health, immune and metabolic aspects and cardiovascular risk). An expert multidisciplinary approach is mandatory to increase the long-term quality of life of women with CAIS.

Download Full-text