Pseudohypoparathyroidism with Hashimoto's thyroiditis and Turner syndrome: a case report.

OBJECTIVE: To report the case of an individual with PHP, Turner syndrome and Hashimoto's thyroiditis. CASE: A 16-year-old girl was referred to our hospital with chief complaint of short stature. She presented with round chubby facies, short neck, obesity and short stature. Radiography indicated short metatarsals and metacarpals, which mainly affected the second, third and fourth digits. Biochemistry revealed hyperphosphatemia, increased serum concentrations of parathyroid hormone and thyroid stimulating hormone, elevated levels of follicular-stimulating hormone and prolactin, and increased thyroid peroxidase antibody and thyroglobulin antibody. Radiographic examination revealed delayed bone age and pelvic ultrasonography demonstrated an immature uterus. Karyotype analysis showed 46,X,i(Xq10), while molecular analysis revealed a same sense mutation in exon 5 of GNAS (ATC → ATT, Ile).The specific diagnosis was made of Turner syndrome in the presence of Hashimoto's thyroiditis and PHP. She was treated with calcium supplementation, calcitriol and thyroxine. CONCLUSIONS: This is the first case report to describe a combination of Turner syndrome with these other clinical entities, and their co-existence should be considered and further investigated.

Recurrent ACTH-independent Cushing's syndrome in multiple pregnancies.

A 27-year-old woman presented with Cushing's syndrome. Typical clinical symptoms and signs developed at the beginning of each pregnancy. The latest three pregnancies all ended with natural abortion at about three months. It was the fourth time that she was pregnant. By week 18 of gestation, plasma cortisol diurnal rhythm was absent, basal urinary free cortisol was 1650 µg/24 h and ACTH levels were suppressed. The diagnosis of ACTH-independent Cushing's syndrome was established. Cushing's syndrome in the patient resolved within four weeks of abortion. But signs and symptoms of hypercortisolism recurred in the fifth pregnancy and resolved soon after abortion during the follow-up. The mechanisms by which pregnancy-induced Cushing's syndrome occurred in this patient are unclear. Aberrant responsiveness or hyperresponsiveness of adrenocortical cells to a non-ACTH and non-CRH substance produced in excess in pregnancy should be considered.