Bone mineral density in complete androgen insensitivity syndrome and the timing of gonadectomy.

OBJECTIVE: Low bone mineral density (BMD) has been reported in complete androgen insensitivity syndrome (CAIS), but the impact of timing of gonadectomy is not known. We aimed to assess the relationship between age of gonadectomy and BMD in women with CAIS. DESIGN: Retrospective analysis of pre- and post-gonadectomy parameters in women with CAIS attending an adult Disorders of Sex Development (DSD) clinic in a tertiary centre. PATIENTS: One hundred and thirteen women with CAIS. MEASUREMENTS: Dual-energy X-ray absorptiometry (DXA) before and after gonadectomy; and pre-gonadectomy hormone profile. RESULTS: Mean BMD was reduced (95% confidence interval); T-score -1.34 (-1.55 to -1.13; P<.001) at the lumbar spine and -0.3 (-0.49 to -0.12; P=.001) at the hip. There was no relationship between age of gonadectomy and BMD. Thirty-two subjects had BMD measured before or within 2 years of gonadectomy, and mean BMD was reduced (95% CI) at the lumbar spine; T-score: -1.05 (-1.54 to -0.57; P<.001), but was normal at the hip; T-score -0.04 (-0.35 to 0.28; P=.8). There was no relationship between BMD and history of hernia, testosterone, oestradiol or follicle stimulating hormone levels. Twelve subjects had DXA both before and after gonadectomy, and after 4.3 (1.7-12.8) years, there was no change in BMD. CONCLUSIONS: We found reduced BMD at the spine and hip in subjects with CAIS. We found no relationship between age of gonadectomy and BMD, and we also found no drop in BMD in subjects followed up after gonadectomy.

A case series of Paget's disease of bone in Chinese.

OBJECTIVE. To report a series of patients with Paget's disease of bone that is rarely diagnosed in the Chinese, and to describe their presentations and clinical characteristics. DESIGN. A retrospective case series and literature review. SETTING. A regional public hospital in Hong Kong. PATIENTS. Patients with a diagnosis of Paget's disease of bone (or osteitis deformans) documented in the Clinical Management System of the Hospital Authority and being followed up in the medical endocrine clinic of the Pamela Youde Nethersole Eastern Hospital were identified in July 2011. This was performed using the Clinical Data Analysis and Reporting System of the Hospital Authority. Corresponding case notes and radiological imaging data were retrieved and reviewed. Patients with diagnostic X-ray or computed tomography findings of Paget's disease of bone were included in this series. The demographic data, clinical features, and investigation results of the cases were retrieved, recorded, and analysed. RESULTS. Seven Chinese patients (5 men and 2 women; mean age, 66 years) diagnosed to have Paget's disease of bone from 2000 to 2010 were identified. All but one were asymptomatic and presented as an incidental finding (isolated raised serum alkaline phosphatase level or abnormal X-ray). The most commonly involved sites were the skull and pelvis. The majority (71%) of the patients had polyostotic disease. During follow-up, there were no disease-related complications, nor was malignant transformation identified. None reported positive family history. CONCLUSION. In this series of seven Chinese patients with Paget's disease, most were asymptomatic and presented with an isolated raised serum alkaline phosphatase level during routine testing. The disease was predominantly found in males and the elderly, and commonly involved the skull and pelvis.

Clinical and biochemical characteristics of adrenocorticotropin-secreting macroadenomas.

CONTEXT: Cushing's disease as a result of a pituitary macroadenoma is an uncommon cause of Cushing's syndrome, and reports in the published literature are few and of limited size. OBJECTIVE: Our objective was to establish the clinical and biochemical characteristics of macroadenomas associated with Cushing's disease compared with a large cohort of microadenomas and to assess their response to therapy. DESIGN: We conducted a retrospective case-records study for the years 1964-2001. SETTING: The study occurred at a tertiary referral hospital center. PATIENTS: Patients had Cushing's disease presenting with a pituitary macroadenoma, in comparison with a large group of microadenoma patients. INTERVENTIONS: Interventions included therapy with surgery and radiotherapy. MAIN OUTCOME MEASURES: Outcome measures included basal and dynamically responsive plasma ACTH and cortisol levels and response to treatment. RESULTS: We identified 18 patients with Cushing's disease secondary to a macroadenoma; basal 0900 h plasma ACTH was 135.8 +/- 32.5 and 45.0 +/- 4.3 ng/liter (mean +/- SEM), respectively, in macroadenomas and microadenomas (P = 0.013). Mean 0900 h serum cortisol was significantly increased in the macroadenomas (27.5 +/- 3.0 microg/dl, 759.6 +/- 82.6 nmol/liter, vs. 22.6 +/- 0.6 microg/dl, 624.7 +/- 16.4 nmol/liter) (P = 0.021). Testing with high-dose dexamethasone showed less suppression in the macroadenomas (57.6 +/- 8.7% vs. 74.4 +/- 2.1%; P = 0.02) and an attenuated ACTH response to CRH. For all biochemical variables there was considerable overlap between the two groups. Few patients with macroadenomas were cured by surgery. CONCLUSIONS: Pituitary macroadenomas causing Cushing's disease have biochemical features largely distinct from patients harboring microadenomas but represent one end of a continuum.