Mutations in the fibroblast growth factor receptor 1 gene (FGFR1) have been reported in patients with Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). Here, we report an nIHH patient with a novel mutation in FGFR1. The patient was a 19-year-old female who presented the nIHH phenotype with primary amenorrhea, cleft lip and palate, mixed hearing disorders, and skel...

BACKGROUND Primary amenorrhea due to 46,XY disorders of sex differentiation (DSD) is a frequent reason for consultation in endocrine and gynecology clinics. Among the genetic causes of low-testosterone primary amenorrhea due to 46,XY DSD, SRY gene is reported to be frequently involved, but other genes, such as SF1 and WT1, have never been studied for their prevalence. METHODS We directly sequ...

Secondary amenorrhea in women of reproductive age may be an indication of an undiagnosed, chronic condition and appropriate treatment is dependent upon accurate diagnosis of the underlying etiology. A thorough clinical assessment and a few common laboratory tests can easily identify the most frequent causes of secondary amenorrhea. However. in these cases, misdiagnosis is unfortunately common a...

Wedge resection of the ovary was carried out in 45 anovulatory women to study the correlation between the degree of disturbance of ovulation and the histopathological findings. Polycystic ovary was always found in patients with anovulatory cycles. The ovaries in grade 1 amenorrhea showing withdrawal bleeding in response to gestagen alone belonged to the nonspecific type, polycystic type and scl...

Galactorrhea is commonly caused by hyperprolactinemia, especially when it is associated with amenorrhea. Hyperprolactinemia is most often induced by medication or associated with pituitary adenomas or other sellar or suprasellar lesions. Less common causes of galactorrhea include hypothyroidism, renal insufficiency, pregnancy, and nipple stimulation. After pathologic nipple discharge is ruled o...

OBJECTIVE To evaluate the clinical and hormonal characteristics of patients with Sheehan's syndrome in Xinjiang, China. METHODS 97 cases diagnosed as Sheehan's syndrome in our hospital from 1999 to 2013 were retrospectively reviewed. The medical history, physical examination findings and hormonal profiles were documented and analyzed. RESULTS The mean age at diagnosis was 43.7±12.4 years, w...

OBJECTIVE To address the possibility that HFE mutations and TF gene polymorphism cause dysfunction of spermatogenesis and/or the hypothalamic-pituitary-gonadal axis via contribution to long-term iron overload in the testes and brain. DESIGN Case-control and association study. SETTING Clinic of obstetrics and gynecology and university-based research laboratory. PATIENT(S) 127 infertile men...

OBJECTIVE We reviewed previous studies that have described an association between abnormal functioning of the hypothalamic-pituitary-adrenal axis and depression. In addition to melancholic depression, a spectrum of conditions may be associated with increased and prolonged activation of the hypothalamic-pituitary-adrenal axis. In contrast another group of states is characterized by hypoactivatio...