Open Access. Powered by Scholars. Published by Universities.®
Articles 1 - 4 of 4
Full-Text Articles in Medicine and Health Sciences
Ultrasound-Assisted Repair Of A Unique Case Of Distal Vaginal Agenesis, J. Kresowik, Ginny Ryan, J. Austin, Bradley Van Voorhis
Ultrasound-Assisted Repair Of A Unique Case Of Distal Vaginal Agenesis, J. Kresowik, Ginny Ryan, J. Austin, Bradley Van Voorhis
Ginny L. Ryan
OBJECTIVE: To describe a unique vaginal outlet obstruction and its ultrasound-assisted surgical correction. DESIGN: Case report. SETTING: An academic medical center. PATIENT(S): A 12-year-old girl was seen with cyclic abdominal pain, nausea, and an abdominal mass. External genital examination revealed no vaginal opening or dimple. Transabdominal ultrasound revealed a large hematometrocolpos 5 cm proximal to the perineum, with an otherwise normal-appearing uterus and ovaries. INTERVENTION(S): Surgical treatment included perineal incision, creation of a 5-cm passage through connective tissue, drainage of the hematometrocolpos, and mobilization of the proximal vagina, allowing for pull-through vaginoplasty. Ultrasound guidance was used throughout the surgery and …
Intrinsic Differences In The Response Of The Human Lutropin Receptor Versus The Human Follitropin Receptor To Activating Mutations, Meilin Zhang, Ya-Xiong Tao, Ginny Ryan, Xiuyan Feng, Francesca Fanelli, Deborah Segaloff
Intrinsic Differences In The Response Of The Human Lutropin Receptor Versus The Human Follitropin Receptor To Activating Mutations, Meilin Zhang, Ya-Xiong Tao, Ginny Ryan, Xiuyan Feng, Francesca Fanelli, Deborah Segaloff
Ginny L. Ryan
In contrast to the human lutropin receptor (hLHR), very few naturally occurring activating mutations of the structurally related human follitropin receptor (hFSHR) have been identified. The present study was undertaken to determine if one aspect underlying this discrepancy might be a general resistance of the hFSHR to mutation-induced constitutive activity. Five different mutations were introduced into both the hLHR and hFSHR (four based on activating mutations of the hLHR gene, one based on an activating mutation of the hFSHR gene). Our results demonstrate that hFSHR constitutively activating mutants (CAMs) were not as active as hLHR CAMs containing the comparable mutation. …
Evaluating The Roles Of Follicle-Stimulating Hormone Receptor Polymorphisms In Gonadal Hyperstimulation Associated With Severe Juvenile Primary Hypothyroidism, Ginny Ryan, X. Feng, C. D'Alva, M. Zhang, Bradley Van Voorhis, E. Pinto, A. Kubias, S. Antonini, A. Latronico, D. Segaloff
Evaluating The Roles Of Follicle-Stimulating Hormone Receptor Polymorphisms In Gonadal Hyperstimulation Associated With Severe Juvenile Primary Hypothyroidism, Ginny Ryan, X. Feng, C. D'Alva, M. Zhang, Bradley Van Voorhis, E. Pinto, A. Kubias, S. Antonini, A. Latronico, D. Segaloff
Ginny L. Ryan
CONTEXT: Rare activating mutations of the human (h)FSHR have been reported in some women with spontaneous ovarian hyperstimulation in pregnancy, where follicular growth is inappropriately stimulated by elevated concentrations of human chorionic gonadotropin acting through the hFSHR. It is not known whether ovarian hyperstimulation in peripubertal girls with untreated primary hypothyroidism is caused by hFSHR mutations and/or influenced by hFSHR allelic variants, rendering the hFSHR more sensitive to circulating TSH. OBJECTIVE: The aim of the study was to determine whether mutations of the hFSHR and/or hFSHR allelic variants are associated with greater sensitivity of the hFSHR to TSH. DESIGN: The …
Molecular Analysis Of The Neuropeptide Y1 Receptor Gene In Human Idiopathic Gonadotropin-Dependent Precocious Puberty And Isolated Hypogonadotropic Hypogonadism, K. C. Freitas, Ginny Ryan, V. N. Brito, Y. X. Tao, E. M. Costa, B. B. Mendonca, D. Segaloff, A. C. Latronico
Molecular Analysis Of The Neuropeptide Y1 Receptor Gene In Human Idiopathic Gonadotropin-Dependent Precocious Puberty And Isolated Hypogonadotropic Hypogonadism, K. C. Freitas, Ginny Ryan, V. N. Brito, Y. X. Tao, E. M. Costa, B. B. Mendonca, D. Segaloff, A. C. Latronico
Ginny L. Ryan
OBJECTIVE: To investigate the role of mutations or polymorphisms in the NPY-Y1R gene in human idiopathic central pubertal disorders. DESIGN: Molecular studies. SETTING: University hospital. PATIENT(S): Thirty-three patients with gonadotropin-dependent precocious puberty, 22 with hypogonadotropic hypogonadism, and 50 controls. INTERVENTION(S): Genomic DNA extraction, NPY-Y1R gene sequence analysis, cell-surface expression, and functional activity of an identified receptor variant. MAIN OUTCOME MEASURE(S): Results of sequencing, cell-surface receptor expression, and receptor function. RESULT(S): A heterozygous substitution of lysine (K) by threonine (T) at position 374 in the carboxyl terminal region of NPY-Y1R was identified in a girl with familial GDPP. Her mother, who …