RESUMO
Objective Clinical data of 19 Chinese patients with 21 hydroxylase deficiency (21OHD) were analyzed to improve the diagnosis and treatment level. Methods Clinical features and laboratory data were collected from 19 patients with 21OHD before and after treatment. Results In male patients, the average age of early appearance of secondary sexual character was (9.3?2.8)yrs, and excess androgen resulted in phallic enlargement. Primary amenorrhea was the most common complaint in female(87.5%), and the signs included a varying degree of labioscrotal fusion and clitoral enlargement. The average level of 17-hydroxy progesterone(17OHP) was (63.42?35.07) ?g/L, and adrenocorticotrophic hormone(ACTH), dehydroepiandrosterone(sodium) sulfate(DHEAS) and testosterone(T) were obviously elevated. CT scan showed bilateral adrenal hyperplasia. The level of 17OHP was significantly decreased after treatment[(63.42?35.07) ?g/L vs (3.15?2.71) ?g/L](P
RESUMO
Objective To observe the possible association of serum adiponectin level with testosterone level in patients with isolated hypogonadotropic hypogonadism(IHH).Methods The diagnosis of IHH was made,based on clinical presentations,laboratory examinations of hormones and GnRH stimulation test.Serum adiponeetin and testosterone levels were measured in 23 IHH patients and 15 normal men.Results After matched for weight,blood pressure and waist-to-hip ratio,serum testosterone level in IHH group was significantly lower than that in control group [(0.23?0.18 vs 4.20?1.90)?g/L,P
RESUMO
Objective To identify the gene mutation of G protein?-subunit (Gsct) in multiple affected tissues of a patient with McCune-Albright syndrome.Methods The peripheral blood,bone tissue,lesion skin and pleura samples of the patient were collected.Genomic DNA was isolated from these samples,and PCR and direct sequencing were performed.Results The peripheral blood and bone tissue of the patient showed a mutation R201C in Gs?gene.No mutation was detected in the skin and pleura samples of the patient.Conclusion The gene diagnosis confirms that the patient has a classical R201C mutation in Gs?gene and multiple tissues are affected.The mutation occurs early in embryogenesis and clinical features can be polymorphic.