Turner syndrome (TS) is the result of complete or partial deletion of an X chromosome. It is often associated with endocrine dysfunction such as thyroid dysfunction, growth and developmental disorders, glucose and lipid metabolism disor-ders, and so on. Long-term follow-up of children with TS should regularly monitor thyroid autoantibodies, thyroid function, blood glucose and blood lipids for early detection and intervention of the complications, in order to further improve the life quality of children with TS.

Environmental endocrine disruptors have garnered considerable attention in recent years be-cause of their endocrine disruption on sex development disorders. Kisspeptin system might be a novel target for endocrine disruption at the hypothalamic-pituitary-gonad axis. Environmental endocrine disruptors′estrogenic properties make them capable of interacting with the kisspeptin system,and then confer lifelong consequences in-cluding altered pubertal timing, infertility, and metabolic disorders. To date, three compounds have been well studied for their capacity to interfere with kisspeptin signaling pathways:BPA,PCB mixtures,and the phytoestro-gen GEN.

Objective The diagnosis of low frequency sensorineural hearing loss is examined for clinical applications.Methods Pure tone threshold(PTT),acoustic impedance,auditory brainstem response(ABR),distortion product otoacoustic emissions(DPOAE),electrocochleogram(ECochG)and imaging examinations of CT or MRI were performed on 56 cases with low frequency sensorineural hearing loss.Results Among 56 cases of low frequency sensorineural hearing loss,38 cases with sudden low frequency sensorineural hearing loss,9 with Meniere's disease, 6 as auditory neuropathy,1 case of acoustic neuroma,1 case of multiple sclerosis and 1 case with arachnoid cyst of cerebellar hemisphere surface.Conclusion Low frequency sensorineural hearing losses occurred in varied diseases.A comprehensive approach should be taken to diagnose this hearing loss and if necessary,CT or MRI can be utilized to confirm the standard audiologic evaluations.

Most neonatal diabetes mellitus (NDM) is caused by genetic abnormality. Sulfonylurea (SU) has been successfully applied in NDM patients;The pathogenesis of NDM and mechanism of sulfonylurea on molecular level have been illuminated, and recent studies revealed that glycated albumin is a useful glycemic indicator. In this review, the research progress of NDM is summarized.

Objective To explorethe influence of leptin on the onset of puberty, and to study the relationship between leptin and hormones relevant to gonadal axis and its effect on idiopathic central precocious puberty (ICPP) in obese girls. Methods Fifty-six girls with ICPP fulfilled the current diagnostic criteria and came from pediatric endocrinology clinic. The 56 cases were divided into 2 groups according to whether there was obesity or not: 38 non-obese girls with ICPP and 18 obese girls with ICPP. Forty-three age-matched prepubertal girls were divided into non-obese prepuberty group (25 girls) and obese prepuberty group (18 girls). Serum leptin wasassayedwithELISA,andserum FSH, LH and E 2 were determined with immunochemiluminescent. Results As compared with non-obese prepuberty group [(4.1?1.5)?g/L], the leptin concentrations in obese ICPP group [(14.7?7.5)?g/L], non-obese ICPP group [(8.8?5.1)?g/L] and obese prepuberty group [(8.0?5.3)?g/L] were significantly higher (P

Objective The diagnosis of low frequency sensorineural hearing loss is examined for clinical applications.Methods Pure tone threshold (PTT),acoustic impedance,auditory brainstem response(ABR),distortion product otoacoustic emissions(DPOAE),electrocochleogram(ECochG) and imaging examinations of CT or MRI were performed on 56 cases with low frequency sensorineural hearing loss.Results Among 56 cases of low frequency sensorineural hearing loss,38 cases with sudden low frequency sensorineural hearing loss,9 with Meniere's disease,6 as auditory neuropathy,1 case of acoustic neuroma,1 case of multiple sclerosis and 1 case with arachnoid cyst of cerebellar hemisphere surface.Conclusion Low frequency sensorineural hearing losses occurred in varied diseases.A comprehensive approach should be taken to diagnose this hearing loss and if necessary,CT or MRI can be utilized to confirm the standard audiologic evaluations.

Objective To study the clinical findings and audiological characteristics of auditory neuropathy. Methods Clinical findings, pure tone threshold, acoustic impedance audiometry, speech audiometry, auditory brainstem response (ABR) and distortion product otoacoustic emission( DPOAE) were analyzed in 23 cases of auditory neuropathy. Results The patients were predominantly youngster, female more than male. Pure tone audiometry revealed mainly binaural symmetric upward - sloping audiogram with mild and moderate hearing loss at low frequencies. Speech discrimination score was obviously reduced, which was disproportionately to the pure tone threshold. Ipsilateral and contralateral stapedial reflex were absent. ABR was severely abnor- mal. DPOAIE was normal or nearly normal. Conclusion Clinical findings and systemic audiometry revealed the main characteristics of auditory neuropathy, which could be used not only for the understanding, but also for the diagnosis of this disease.

Traditional concept has been that hematopoietic stem cells (HSC) are tissue-specific stem cells, which are restricted to generate the cell types of the blood and immune system. However, recent studies have shown that there is a higher plasticity of the HSC than previous expected, it can be induced to transdifferentiated into mature cells of other nonhematopoietic organs after transplantation in vivo. In this article, the recent advances in the plasticity of HSC and its potential clinical application are reviewed.

Objective To explore the characte ristics of pure tone threshold (PTT) in auditory neuropathy. Methods The results of PTT audiometry were analysed in 48 patients with auditory neuropathy and compared with that of cochlear deafness. Results PTT audiograms in auditory neuropathy group r evealed curves including ascending slope, peak, spoon, letter W, lain letter S, flat, gentle slope. Binaural symmetric PTT audiograms were seen in 38 cases and asymmetric in 10 cases. The auditory threshold in auditory neuropathy showed a e levated range from mild to moderate degrees. Elevated degrees of auditory thresh old in left and right ears were consistent. The elevations of low-frequency audi tory threshold or in the main feature of low-frequency auditory threshold were 9 3.75% (90/96 ears) in the PTT audiograms. Conclusion The elevations of biauricular symmetric and ba sic symmetric low-frequency auditory threshold or in the main feature of low-fre quency auditory threshold were important characteristics of auditory neuropathy.

Congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic disease due to glucocorticoid biosynthesis enzyme deficiency,in addition to the common types such as 21-hydroxylase,11 β-hydroxylase deficiency,also include rare types such as 3 β-hydroxysteroid dehydrogenase deficiency,17α-hydroxylase deficiency and congenital lipoid adrenal hyperplasia (CLAH).These rare types of CAH have multiple clinical manifestations,which are easily missed or misdiagnosed.This article focus on molecular genetics,pathophysiology,clinical manifestations and treatment principles of above 3 rare types of CAH.