Problem:
A 19 year old woman presented with primary amenorrhoea. She was normal in appearance, except for the almost complete absence of pubic and axillary hair. Gynaecological examination revealed a short, blind-ended vagina, and no cervix was palpable. Radiology showed absence of the uterus. Blood karyotyping showed XY chromosomes. Plasma testosterone 29 nmol/L (adult female 1-2.8; adult male 8.4-30) The diagnosis is that of the testicular feminization syndrome (also called androgen insensitivity syndrome). This is due to a defect in the androgen receptor, leading to androgen resistance, complete in this case. Other mutations cause incomplete androgen resistance, giving rise to a spectrum of genital abnormalities ranging from hypospadias to completely female external phenotype. All are X-linked, since the androgen receptor gene is located on the X chromosome. The testes are inguinal or abdominal. The essential biochemical feature is a high level of testosterone in the presence of incomplete masculinization. Adrenal androgen precursors are not elevated as seen in CAH. i. Why is there an absence of internal genital organs in this disorder? ii. What is the inheritance pattern and typical family history of testicular feminisation syndrome (male pseudo hermaphroditism)? iii. List the 3 zones of the adrenal cortex and the hormones produced there. iv. What is meant by the terms (a) adrenarche (b) thelarche (c) menarche? Need Assignment Help?