Spectacular advances in molecular genetics have enabled the molecular characterisation of many genetic disorders. The clinical applications include: (i) identification of pre-symptomatic and symptomatic affected individuals (monogenic diseases), allowing for early treatment and prevention of complications, (ii) carrier testing for genetic counselling, (iii) pharmacogenetic testing to guide medi...

BACKGROUND The clinical spectrum of 5α-reductase deficiency, caused by mutations in the SRD5A2 gene, ranges from complete female appearance of the external genitalia at birth to nearly complete male phenotype. CASE REPORT A 14-year-old girl presented with primary amenorrhea (PA) and lack of breast development. She was 173 cm in height, had an increased amount of pubic hair and clitoromegaly (...

To try and find out if a defect in androgen biosynthesis or action could be responsible for the incomplete virilisation seen in boys with isolated hypospadias and isolated micropenis, androgen receptor binding was studied in genital skin fibroblasts established from 18 boys with isolated micropenis and 19 boys with isolated hypospadias. The production of gonadotrophint and testosterone was also...

The role of androgen treatment in women remains controversial. The proposed "Female Androgen Insufficiency Syndrome" (Fertility and Sterility, April 2002) describes a number of non-specific symptoms including unexplained fatigue, decreased well being/dysphoric mood and/or blunted motivation and diminished sexual function. An estimated 40% of women experience sexual dysfunction, highlighting the...

OBJECTIVE To examine the effect of oxandrolone and the timing of pubertal induction on final height in girls with Turner's syndrome receiving a standard dose of growth hormone. DESIGN Randomised, double blind, placebo controlled trial. Setting 36 paediatric endocrinology departments in UK hospitals. PARTICIPANTS Girls with Turner's syndrome aged 7-13 years at recruitment, receiving recombin...

OBJECTIVES To present the results of feminising genitoplasty done in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. DESIGN Case series. SETTING A tertiary referral centre in Hong Kong. PATIENTS Female patients with congenital adrenal hyperplasia undergoing corrective surgery for virilisation between 1993 and 2012. MAIN OUTCOME MEASURES The operativ...

AIMS Long acting subcutaneous testosterone pellets are of proved efficacy for the treatment of hypogonadal men, but have not been reported as a treatment modality in adolescent boys. Pharmacodynamic studies of subcutaneous testosterone release have shown prolonged normalisation of testosterone levels for at least four months. Administration of a long acting, safe, effective, and convenient form...

Meningioma growth has been previously described in patients receiving oestrogen/progestogen therapy. We describe the clinical, radiological, biochemical and pathologic findings in a 45-year-old woman with congenital adrenal hyperplasia secondary to a defect in the 21-hydroxylase enzyme who had chronic poor adherence to glucocorticoid therapy with consequent virilisation. The patient presented w...

There have been few testicular histology reports of adult patients with congenital adrenal hypoplasia/hypogonadal hypogonadism (AHC/HH), but Leydig cell hyperplasia has been observed, an indicator of the possibility of malignant transformation. We aimed to define the basis of AHC/HH in 4 pedigrees of different ethnic backgrounds. One patient was elected to have testicular biopsy which was exami...

An adrenal cortical cell rest, an interstitial cell, and a pleuripotent cell have all been suggested as the origin of testicular masses in congenital adrenogenital syndrome. 2 Embryologically the development of the adrenal gland and the genital ridge occurs in close proximity. Adrenal cell rests are therefore known to occur in the spermatic cord, testis, broad ligament, and the ovary. The norma...