Van Wyk-Grumbach Syndrome is an advanced sexual development in association with primary hypothyroidism. The clinical feature in this syndrome is more consistent with stimulation of the FSH receptor by the markedly elevated TSH levels. Treatment of the hypothyroidism results in a rapid return to normal of the biochemical and clinical manifestations. We experienced a case of Van Wyk-Grumbach Syndrome and report with the brief review of related literature.
Hypothyroidism ; Puberty, Precocious ; Receptors, FSH ; Sexual Development

Introduction: In Vietnam, the andrology field has been developed in recent years. Some studies have indicated the reasons for male infertility. Amongst them, the most common reason is abnormal semen. Asthenozoospermia rate was found at a higher ratio in abnormal semen analysis. \r\n', u'Objectives: To identify the characteristics of sperm and concentration of FSH, LH and Testosterone in serum; and the association between the sperm morphology and sperm motility as well as the concentration of FSH, LH and Testosterone in serum of asthenozoospermia men. \r\n', u'Subjects and methods: 90 asthenozoospermia male partners of infertile couples. The semen was analyzed at the Laboratory for Tissue and Embryo Preservation, Hanoi Medical University. The hormone concentration was measured by the Automated Chemiluminescence System ACS 180. \r\n', u'Results: The mean semen volume: 3.0 \xb1 1.1 (ml); sperm density: 104.7 \xb1 86.7 million/ml; rapid motility rate: 5.9 \xb1 6.4 (%); sperm vitality rate: 67.4 \xb1 20.1 (%); normal morphology rate: 14.4 \xb1 6.9 (%). In serum, the concentration of FSH was 5.3 \xb1 2.5 lUlL; LH: 4.1 \xb1 1.8 IU/L. Testosterone: 18.3 \xb1 9.4 nmol/L. Conclusions: Among the studied asthenozoospermia men, normal semen volume was found at 91.11 %; normal sperm vitality parameter: 84.4%; normal morphology parameter: 45.56%; normal level of FSH concentration: 47.7%; normal level of LH concentration: 26.66%; normal level of Testosterone concentration: 78.89%. There was a strong association between the sperm morphology and sperm motility as well as serum Testosterone concentration. \r\n', u'
Semen analysis ; Asthenozoospermia ; FSH ; LH ; Testosteron

OBJECTIVE: This study was performed to determine whether the FSH receptor mutation is present in infertile Korean patients with 46,XX premature ovarian failure (POF) women. METHODS: The variant of FSH receptor exon 10 in thirteen 46, XX idiopathic POF and 4 healthy fertile (control) women were studied. Missense mutation in Exon 10 was detected in POF patients and healthy fertile women by polymerase chain reaction-single stranded conformation polymorphism (PCR-SSCP). RESULTS: The variant types of FSH receptor exon 10 (Thr307Ala; A919G) were found in healthy fertile (control) and POF women. CONCLUSIONS: This mutation may not be specific in POF patients and further study is needed in fertile (control) and POF women.
Exons* ; Female ; Humans ; Mutation, Missense ; Primary Ovarian Insufficiency* ; Receptors, FSH*

Multicystic ovary was first described by Silver in 1958 as a rare case feature of acquired primary hypothyroidism. In 1980, Lindsay reported four girls with hypothyroidism associated with multicystic ovary diagnosed by pelvic ultrasonography. The mechanism of ovarian cyst formation and pseudoprecocious puberty in severe hypothyroidism in childhood are unknown. Increased ovarian sensitivity to GnRH and increased TSH level which acts on FSH receptor is one of the mechanism explained. We report a case of a girl with primary hypothyroidism presented with pseudoprecocious puberty and giant follicular ovarian cyst with torsion.
Adolescent ; Female ; Gonadotropin-Releasing Hormone ; Humans ; Hypothyroidism* ; Ovarian Cysts* ; Ovary ; Puberty ; Receptors, FSH ; Silver ; Ultrasonography

OBJECTIVETo investigate the association between two polymorphisms of follicle stimulating hormone receptor (FSHR) gene and polycystic ovary syndrome (PCOS) susceptibility.

METHODSCase-control studies on relationship of Thr307Ala and Asn680Ser polymorphisms in FSHR gene and PCOS susceptibility were searched from PubMed, ISI web of knowledge, EBSCO, and China National Knowledge Infrastructure (CNKI) databases up to March 21, 2013. The pooled odds ratio (OR) and 95% confidence interval (CI) were calculated using fixed- or random-effect model based on heterogeneity test in 5 genotype models analyses.

RESULTSA total of 11 studies were included in the Meta-analysis. The random-effect analysis showed Asn680Ser was significantly associated with the reduced susceptibility to PCOS with dominant model (Asn/Asn+Asn/Ser vs. Ser/Ser, OR=0.83, 95% CI: 0.69-1.00), recessive model (Asn/Asn vs. Asn/Ser+ Ser/Ser, OR=0.84, 95% CI: 0.72-0.98), homozygote comparison (Asn/Asn vs. Ser/Ser, OR=0.79, 95% CI: 0.63-0.98), and the allele contrast (Asn vs. Ser, OR=0.87, 95% CI: 0.79-0.97) respectively(P=0.02, I(2)=56.0%), being protective factors for PCOS. However, no significant associations were found between Thr307Ala and PCOS.

CONCLUSIONThere might be a significant association between Asn680Ser polymorphism and PCOS.

Female ; Genetic Predisposition to Disease ; Humans ; Polycystic Ovary Syndrome ; genetics ; Polymorphism, Genetic ; Receptors, FSH ; genetics

Follicle-stimulating hormone (FSH) is synthesized and secreted by the anterior pituitary, which binds to its receptors expressed on the membrane of Sertoli cells in the testis to bring about spermatogenesis. With the development of DNA sequencing technology, FSH SNPs rs10835638 and FSHR SNPs rs6165, rs6166, and rs1394205 were detected, which might directly affect the expression of FSH and activity of FSHR, resulting in male spermatogenic dysfunction. This review focuses on the relationship of FSH and FSHR gene polymorphisms with male infertility.
Follicle Stimulating Hormone ; genetics ; Humans ; Infertility, Male ; genetics ; Male ; Polymorphism, Single Nucleotide ; Receptors, FSH ; genetics ; Sertoli Cells ; Spermatogenesis ; Testis

BACKGROUND: Vitamin is a well-known co-factor for many metabolic processes and its roles in fertility and follicular growth have been studied. Vitamin supplementation is frequently achieved by daily ingestion in the form of a complex capsule. However, the role of single and complex vitamins in in vitro maturation of murine follicles is not fully elucidated. METHODS: In this study, we evaluated the effects of two forms of vitamins. Pure L-ascorbic acid, and multi-vitamin (vitamin C+vitamin B complex) was treated at two different concentrations (50 and 100 µg/ml), to pre-puberty murine follicles during in vitro maturation. To determine the specific stage of growth that is affected by treatment with vitamins, the vitamins were treated from day 0, 4, 9, and 13. Growth of each follicle was assessed by measuring diameters of whole expanded area and of the granulosa cells. Expression of follicular and oocyte growth-related genes and the effect of vitamin on the viability of follicles was assessed using senescence associated β-galactosidase staining. RESULTS: Treatment with vitamins promoted the in vitro growth of murine follicles and the upregulated the expression of granulosa cell- and oocyte-specific genes such as BMP15, Fsh receptor, and GDF9. The proliferation of the granulosa cells was enhanced by the treatment of vitamin. Fifty µg/ml concentration vitamin showed greater effects compared to higher concentration. The viability of in vitro grown follicles was also significantly improved in vitamin-treated follicles. The effects of single L-ascorbic acid and complex vitamin were not significantly different to those of day 4 and day 9 follicles. Vitamins promoted murine follicle development in vitro with different effects on specific growth stage. CONCLUSION: Supplementation of vitamins during in vitro maturation of murine follicles is an efficient strategy for in vitro expansion of follicular cells. These results could be customized to the sophisticated culture of follicles retrieved from aged or cancer-survived female that contain smaller number of follicles with reduced potential to develop into mature follicles.
Aging ; Ascorbic Acid ; Eating ; Female ; Fertility ; Granulosa Cells ; Humans ; In Vitro Techniques ; Metabolism ; Oocytes ; Ovarian Follicle ; Receptors, FSH ; Vitamins

The clinical models for studying ovary-determining genes may be premature ovarian failure (POF). POF is a condition causing amenorrhea, hypoestrogenism, and elevated gonadotropins in women under 40 years old. FSH receptor, LH receptor, inhibin, GDF-9 (growth differentiation factor-9), BMP-15 (bone morphogenetic protein-15), DIAPH2 (diaphanous gene) and XPNPEP2 (X-prolyl aminopeptidase) genes were proposed as a possible candidate gene, but until recently, only mutations in FSH receptor, LH receptor and inhibin genes have been identified in POF patients. Therefore mutation screening of another POF gene necessary to reveal the principal causative genes of POF. OBJECTIVE: The present study was performed to analyze the mutation of GDF-9 gene in Korean patient with POF and to investigate whether mutation of these gene is a likely main cause of POF. METHODS: Eighty-six women with POF were studied and thirty-six normal women were enrolled as control. Mutation screening of these genes were performed by denaturing HPLC and were confirmed by automatic sequencing. RESULTS: Three different mutations of GDF-9 gene were identified in Korean women with POF; Arg3Cys mutation in one patient, Leu40Val mutation in one patient, Asp57Tyr mutation in 10 patients and 5 normal controls. Arg3Cys mutation and Leu40Val mutation were likely cause of disease. Frequencies of Arg3Cys mutation and Leu40Val mutation were 1.2%, respectively. Asp57Tyr mutation was common polymorphism in Korean women. All mutations was a novel mutation found in the present study. CONCLUSION: POF was resulted by mutations of GDF-9 gene, but mutations of GDF-9 gene are not likely main causes of POF because of low frequency of mutations.
Adult ; Amenorrhea ; Bone Morphogenetic Protein 15 ; Chromatography, High Pressure Liquid ; Female ; Gonadotropins ; Growth Differentiation Factor 9 ; Humans ; Inhibins ; Mass Screening ; Primary Ovarian Insufficiency* ; Receptors, FSH ; Receptors, LH

OBJECTIVETo observe the protective effects of follicle stimulating hormone (FSH) on human epithelial ovarian cancer cell apoptosis induced by cisplatin (DDP).

METHODSOVCAR3-FSHR cell were treated with DDP and FSH at serials of concentrations, MTT assay was used to examine the growth inhibition of OVCAR3-FSHR cell after treatment with DDP and FSH. Flow cytometry was used to analyze the change of cell cycle and percentage of apoptosis.

RESULTSIt was revealed that FSH decreased the growth inhibition induced by DDP. We also demonstrated that FSH reduced the S-phase percentage compared with the DDP only groups after treatment for 24 hours and reduced apoptosis percentage after 48 hours treatment with DDP.

CONCLUSIONIt is suggested that FSH can protect the apoptosis induced by DDP. It also suggests that FSH may be an important chemoresistent reason for the chemotherapy of ovarian cancer.

Antineoplastic Agents ; pharmacology ; Apoptosis ; drug effects ; Cisplatin ; pharmacology ; Female ; Flow Cytometry ; Follicle Stimulating Hormone ; pharmacology ; Humans ; Ovarian Neoplasms ; chemistry ; pathology ; Receptors, FSH ; analysis ; Tumor Cells, Cultured

BACKGROUNDFollicle stimulating hormone is necessary for normal reproduction in men. The biochemical actions of follicle stimulating hormone result from binding to the follicle stimulating hormone receptor in the plasma membrane of Sertoli cells. Here, we investigated the expression of the follicle stimulating hormone receptor in different testicular histological phenotypes of patients with idiopathic azoospermia.

METHODSFifty-seven cases of idiopathic azoospermia were classified into three groups according to the results of testicular biopsy: patients with hypospermatogenesis, patients with maturation arrest, and patients with Sertoli cell-only syndrome. Thirteen azoospermic patients identified by testicular biopsy as being capable of completing spermatogenesis acted as the control group. Immunohistochemistry and real-time quantitative reverse-transcriptase polymerase chain reaction were performed in each case, and the serum hormone level was also measured in all patients.

RESULTSThe serum follicle stimulating hormone level in patients with Sertoli cell-only syndrome was significantly higher than in patients with hypospermatogenesis, maturation arrest, and complete spermatogenesis (P < 0.01). The serum follicle stimulating hormone level in patients with maturation arrest was significantly higher than in patients with hypospermatogenesis and complete spermatogenesis (P < 0.05). There was no difference in serum follicle stimulating hormone levels in patients with hypospermatogenesis and complete spermatogenesis. The follicle stimulating hormone receptor expression level of testicular samples with Sertoli cell-only syndrome was significantly higher than in those with hypospermatogenesis, maturation arrest, and complete spermatogenesis (P < 0.05), but no significant difference was observed among hypospermatogenesis, maturation arrest, and complete spermatogenesis testicular samples.

CONCLUSIONSDifferent serum follicle stimulating hormone levels and follicle stimulating hormone receptor expression were found in the different testicular histology phenotypes in azoospermic patients. Differential follicle stimulating hormone receptor expression in testicular tissue of patients with idiopathic azoospermia may be associated with the degree of spermatogenesis.

Adult ; Azoospermia ; blood ; metabolism ; Follicle Stimulating Hormone ; blood ; Humans ; Male ; Oligospermia ; blood ; metabolism ; Receptors, FSH ; genetics ; metabolism ; Spermatogenesis ; physiology ; Testis ; metabolism