Shilin Zhang, M. D. , Tao Wang, M. D. , Jun Yang, M. D. , Zhuo Liu, M

Slides:



Advertisements
Similar presentations
Hyacinth N. Browne, M.D., Richard Sherry, M.D., Pamela Stratton, M.D. 
Advertisements

Ping Yang, M. D. , Xin Luan, M. D. , Yingqian Peng, M. D
Akanksha Mehta, M.D., Mark Sigman, M.D.  Fertility and Sterility 
Edward G. Hughes, M.B., F.R.C.S.(C.), Deirdre DeJean, M.Sc. 
Christine Jablonski, M. D. , Marco Alifano, M. D
The relative effects of hormones and relationship factors on sexual function of women through the natural menopausal transition  Lorraine Dennerstein,
Fernando Zegers-Hochschild, M.D.  Fertility and Sterility 
Thyroid antibodies and gestational diabetes mellitus: a meta-analysis
Michael M. Alper, M.D.  Fertility and Sterility 
Ya-Nan Chang, M. M. , Ying Zhang, M. D. , Yong-Jun Wang, M. D
Laparoscopy for differential diagnosis of a pelvic mass in a patient with Mayer- Rokitanski-Küster-Hauser (MRKH) syndrome  Malgorzata Lanowska, M.D., Giovanni.
Angel Chao, M. D. , Ph. D, An-Shine Chao, M. D. , Tzu-Hao Wang, M. D
Heterozygous variant at nucleotide position A>T in exon 6A cystic fibrosis transmembrane conductance regulator gene induces 852del22 mutation false-positivity.
Distribution of male infertility specialists in relation to the male population and assisted reproductive technology centers in the United States  Ajay.
Eleonora Marchina, M. D. , Alessandro Gambera, M. D
Conservative management of cervical ectopic pregnancy
Can an educational DVD improve the acceptability of elective single embryo transfer? A randomized controlled study  Nicole Hope, M.B., B.S., Hon., Luk.
Medical treatment of ectopic pregnancy: a committee opinion
Ali Sazci, Ph. D. , Nesrin Ercelen, M. D. , Emel Ergul, M. S
How old is too old? Challenges faced by clinicians concerning age cutoffs for patients undergoing in vitro fertilization  Robert L. Klitzman, M.D.  Fertility.
Giant uterine leiomyomata
Transurethral partial cystectomy and laparoscopic reconstruction for the management of bladder endometriosis  See-Tong Pang, M.D., Ph.D., Angel Chao,
Oocyte cryopreservation
Mithra L. Narasimhan, M.B.B.S., Ahmed Khattab, M.D. 
The first successful paternity through in vitro fertilization–intracytoplasmic sperm injection with a man homozygous for the 5α-reductase-2 gene mutation 
Klinefelter's syndrome with unilateral absence of vas deferens
Chih-Ping Chen, M. D. , Shuan-Pei Lin, M. D. , Fuu-Jen Tsai, M. D
Reply of the Authors Fertility and Sterility
Robert F. Casper, M.D.  Fertility and Sterility 
Gadolinium radiologic contrast is a useful alternative for hysterosalpingography in patients with iodine allergy  Dorette Noorhasan, M.D., Michael J.
Mieke Carine Wim Eeckhaut, Ph.D.  Fertility and Sterility 
Preimplantation genetic diagnosis for Duchenne muscular dystrophy by multiple displacement amplification  Zi Ren, M.D., Ph.D., Hai-tao Zeng, M.D., Ph.D.,
Patients with severe ovarian hyperstimulation syndrome can be managed safely with aggressive outpatient transvaginal paracentesis  Laura P. Smith, M.D.,
Mutational analysis of androgen receptor gene in four Chinese patients with male pseudohermaphroditism  Xueyan Wu, M.D., Qi Zhou, M.Sc., Jiangfeng Mao,
Clomiphene citrate at 50: the dawning of assisted reproduction
Fertility status in male cystinosis patients treated with cysteamine
Inequity between male and female coverage in state infertility laws
Akanksha Mehta, M.D., Darius A. Paduch, M.D., Ph.D. 
Evaluation of diagnostic testis biopsy and the repetition of testicular sperm extraction surgeries in infertility patients  Alayman Hussein, M.B.B.C.H.,
The forgotten coil Fertility and Sterility
“Information-rich” reproductive outcomes in carriers of a structural chromosome rearrangement ascertained on the basis of recurrent pregnancy loss  Michelle.
Preimplantation genetic diagnosis for Zellweger syndrome
Reversal of hypogonadotropic hypogonadism with tamoxifen in a patient with hyperprolactinemia resistant to dopamine agonists  José M. López, M.D., Eveline.
A novel frameshift mutation in the 5α-reductase type 2 gene in Korean sisters with male pseudohermaphroditism  Sung Hoon Kim, M.D., Kun Suk Kim, M.D.,
P-425 Fertility and Sterility Volume 86, Issue 3, (September 2006)
Website quality assessment: Mistaking apples for oranges
Lindsay M. Mains, M. D. , Babak Vakili, M. D. , Yves Lacassie, M. D
Pregnancy outcome in infertile patients with polycystic ovary syndrome who were treated with metformin  Samuel S. Thatcher, M.D., Ph.D., Elizabeth M.
A case of ovarian hyperstimulation syndrome associated with the methylenetetrahydrofolate reductase mutation gene  Filippo Ferrara, M.D., Francesco Meli,
Preconception blood pressure and risk of preterm birth: a large historical cohort study in a Chinese rural population  Ying Yang, Ph.D., Yuan He, Ph.D.,
L. Scott, J. Bernsten, K. DeLegge, J. Hill, N. Ramsing 
Fertility and Sterility: an evaluation
Sedigheh Borna, M.D., Azita Nasery, M.D.  Fertility and Sterility 
Impact of subclinical hypothyroidism in women with recurrent early pregnancy loss  Lia A. Bernardi, M.D., Ronald N. Cohen, M.D., Mary D. Stephenson, M.D.,
Adenomyosis in the baboon is associated with primary infertility
Maternal and female fetal virilization caused by pregnancy luteomas
Ovarian cystic teratoma with a pathognomonic appearance of multiple floating balls: a case report and investigation of common characteristics of the cases.
Current evaluation of amenorrhea
Genetic evaluation procedures at sperm banks in the United States
A simplified novel laparoscopic formation of neovagina for cases of Mayer-Rokitansky- Küster-Hauser syndrome  Atef Mohammad Darwish, M.D.  Fertility and.
Amenorrhea and “man hands”
David H. Barad, M.D., M.S., Norbert Gleicher, M.D. 
Ronald M. Yang, M. D. , Richard A. Fefferman, M. D. , Charles E
Combined use of multiplex ligation-dependent probe amplification and automatic sequencing for identification of KAL1 defects in patients with Kallmann.
In vitro sildenafil citrate use as a sperm motility stimulant
Obstructed uteri with a cervix and vagina
Progesterone level and progesterone/estradiol ratio on the day of hCG administration: detrimental cutoff levels and new treatment strategy  Eman A. Elgindy,
Endometrial polyps affect uterine receptivity
P-24 Fertility and Sterility Volume 85, Pages S19-S20 (April 2006)
Rudimentary uterine horn pregnancy: a mystery diagnosis
Presentation transcript:

A fertile male patient with Kallmann syndrome and two missense mutations in the KAL1 gene  Shilin Zhang, M.D., Tao Wang, M.D., Jun Yang, M.D., Zhuo Liu, M.D., Shaogang Wang, M.D., Jihong Liu, M.D.  Fertility and Sterility  Volume 95, Issue 5, Pages 1789.e3-1789.e6 (April 2011) DOI: 10.1016/j.fertnstert.2010.11.045 Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions

Figure 1 Time line of the events. Fertility and Sterility 2011 95, 1789.e3-1789.e6DOI: (10.1016/j.fertnstert.2010.11.045) Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions

Figure 2 Sequence analysis of exon 11 of the KAL1 gene. The mutations in the patient were two transitions of two bases, G1960A and G1765A, at codon 514 and 539, creating Glu(E)514Lys(K) and Glu(E)539Lys(K) mutations, respectively. The bases of transition are indicated with arrows and the normal sequence can be seen on the left. Fertility and Sterility 2011 95, 1789.e3-1789.e6DOI: (10.1016/j.fertnstert.2010.11.045) Copyright © 2011 American Society for Reproductive Medicine Terms and Conditions