ABSTRACT
Objective:To summarize the clinical manifestations of four patients with 46, XY disorders of sex development(46, XY DSD)due to doublesex and mab-3 related transcription factor 1(DMRT1)gene variant/haploinsufficiency, and to improve the understanding of clinicians for this disease.Methods:The medical history, physical examination, endocrine function assessment, gonadal pathology, and genetic data of 4 patients with 46, XY DSD were retrospectively collected.Results:A heterozygous new missense mutation in DMRT1 was found in one child. The chief complain was primary amenorrhoea at the age of 15 years, with the external masculinisation score(EMS)0. The DMRT1 haploinsufficiency was found in 3 cases, 1.2 Mb, 5.1 Mb, and 6.0 Mb fragments were deleted at the 9p, and one of 3 cases had 33.3 Mb repeats in the 5p. All patients visited doctor under 1 year. Two patients were raised as females, and one was raised as male. All chief complains were external genital abnormalities, EMS of them were 1, 0, and 5 respectively. Endocrine evaluation of 2 out of 4 children showed varying degrees of primary hypogonadism, and presented with complete gonadal dysgenesis. One patient showed a well function of Leydig cells and poorly function of Sertoil cells, and presented with mixed gonadal dysgenesis. One of 3 cases was diagnosed with gonadoblastoma at the age of 18 months. Patient No.4 didn′t agree with the gonadal biopsy. The chromosome karyotypes of 4 children were 46, XY.Conclusions:The visiting ages of 46, XY DSD patients caused by DMRT1 variation were older than those of patients caused by DMRT1 haploinsufficiency. The clinical manifestations are complex, and gonadal function can vary from normal to complete gonadal dysgenesis. Such patients are at high risk of gonadoblastoma and young onset. Gonadal biopsy should be performed as early as possible.
ABSTRACT
A retrospective study included 30 cataract cases (30 eyes) with history of vitrectomy. Phacoemulsifica-tion or small incision non-phacoemulsification was performed with vitreous irrigation of 23G TSV. Observe the visual acuities, intraoperative and postoperative complications. Posterior capsule rupture intraoperatively occurred in one patient with phacoemulsification. Three patients suffered intraocular hypotension postoperatively, including one with choroidal detachment, and the other two probably with leakage from incisions. However,the intraocular pressure rised to normal after treatment. Corneal edema and aqueous flare postoperatively occurred in four patients with hard nucleus cataract and three patients with diabetic retinopathy. There were no serious complications occurred in all patients, such as sclera collapse, nucleus sinking into vitreous chamber and bleeding in epichoroidal space. The visual acuities were improved after operation in twenty-eight patients.