Results 61 to 70 of about 22,923 (218)

Patients With Pituitary Neuroendocrine Tumours Requiring Neurosurgery –Who Is Referring Them?

Clinical Endocrinology, EarlyView.
ABSTRACT Objective Patients living with pituitary neuroendocrine tumours (PitNETs) present with a spectrum of clinical manifestations and often follow a circuitous route to diagnosis, resulting in diagnostic delays. The objective of this study is to identify and report the various sources of referrals for patients who underwent pituitary resection for ...
Doua S. Ahmed, Brian Herron, Stephen Cooke, Philip Weir, Jane Evanson, Estelle G. Healy, Karen R. Mullan, Stephanie G. Craig, Jacqueline A. James, Márta Korbonits, Steven J. Hunter, Paul Benjamin Loughrey   +11 more
wiley   +1 more source

CYTOGENETIC ABNORMALITIES IN PATIENTS WITH PRIMARY AMENORRHEA

Pakistan Armed Forces Medical Journal, 2020
Objective: To determine pattern of different cytogenetic abnormalities found in patients of primary amenorrhea. Study Design: Cross sectional study.
Aysha Khan, Altaf Chaudhry, Hamid Malik, Ayesha Khurshid   +3 more
doaj  

Mitochondrial DNA Depletion Syndrome 1 (MTDPS1)—A Novel Cause of Premature Ovarian Insufficiency

Clinical Genetics, EarlyView.
We describe a woman with MNGIE due to a novel homozygous TYMP nonsense variant and propose MNGIE as the cause of her premature ovarian insufficiency—a rarely reported association—highlighting the need to consider mitochondrial disease in unexplained POI, especially in atypical, consanguineous presentations. ABSTRACT Mitochondrial DNA depletion syndrome
Michael Matheou, Helen Turner, Deborah Shears, Fredrik Karpe   +3 more
wiley   +1 more source

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

Clinical Genetics, EarlyView.
We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil, Neta Feinstein‐Goren, Lior Greenbaum, Ortal Barel, Daniel C. Koboldt, Samantha A. Brugmann, Kathryn Nicole Weaver, Anne Slavotinek, Ben Pode‐Shakked, Rolf W. Stottmann   +9 more
wiley   +1 more source

Amenorrea primaria y disgerminoma en una paciente con disgenesia gonadal pura, reporte de caso

Revista Colombiana de Endocrinología, Diabetes y Metabolismo, 2017
La amenorrea primaria representa un reto diagnóstico para el médico general y especialista, dado que el espectro etiológico es amplio y se requiere de un adecuado enfoque para garantizar una correcta orientación terapéutica.
Diego Armando Guerrero Gómez, Yessica Agudelo Zapata, Hector Sandoval Alzate, Luis Maldonado Acosta, Juan Manuel Arteaga Díaz, Roberto Franco Vega   +5 more
doaj   +1 more source

Unraveling the Genetic Mysteries of Müllerian Anomalies: Research Approaches and Clinical Significance

Clinical Genetics, EarlyView.
This review primarily summarizes the genetic defects in Müllerian anomalies, the tools used to validate these genetic defects, and the future clinical significance of identifying the precise genetic etiology of Müllerian anomalies. ABSTRACT Müllerian anomalies are a collection of heterogeneous anatomical disorders of the female genital tract that ...
Jingfang Li, Xin Hou, Xiangyu Wang, Juan Li, Li Li, Xiangyi Ma   +5 more
wiley   +1 more source

Clinical investigation of the primary and secondary amenorrhea by cytogenetic analysis [PDF]

, 2022
B. Flora Bai, Chirayu Padhiar, Surya P. Rao, A. Sujithra, S. Esther Banu, Santhosh A. Wilson Aruni Kumar   +5 more
openalex   +1 more source

Pubertal Assessment and Growth in Patients With Hemoglobinopathies: A Longitudinal Multicenter Study on the Association With Ferritin Levels

European Journal of Haematology, EarlyView.
ABSTRACT Objectives Although Advancements in the Treatment of Hemoglobinopathies have Considerably Increased Life Expectancy, Hormonal and Pubertal Development Have Been Continuously Affected by Complications From Transfusion‐Related Iron Overload and Cytotoxic Therapies.
J. Dülberg, C. Sanchez, M.‐A. Burckhardt, L. Alacán Friedrich, V. Salow, A. Radauer‐Plank, A. Borgmann‐Staudt, H. Cario, M. Diepold, B. Drexler, L. Infanti, S. Kroiss, N. Dietliker, R. Merki, L. Njue, L. Oevermann, A. Rovó, K. Scheinemann, M. Schneider, M. Balcerek, T. Diesch‐Furlanetto   +20 more
wiley   +1 more source

Prevalence of Menstrual Dysfunction and Hormonal Contraceptive Use Among Elite Female Athletes from Different Sports in Germany

Sports Medicine - Open
Background While a regular menstrual cycle is an indicator of good health, menstrual dysfunction (MD) and wrong beliefs regarding hormonal contraceptives (HC) are quite common among elite female athletes and threaten their health. This study aimed to (1)
Elisabeth M. Kirschbaum, Katharina Fischer, Dorothee Speiser, Franziska Lautenbach, Friedemann Schwenkreis, Anne Dathan-Stumpf, Kirsten Legerlotz   +6 more
doaj   +1 more source

A Study of Cytogenetic Pattern in Amenorrhea

International Journal of Anatomy Radiology and Surgery, 2017
Introduction: Menstruation is an important physiological function of female reproductive system during reproductive age. Prevalence of amenorrhea is higher in Indian population with a potential social impact.
V. Rajitha, G. Rekha, S. Senthil Nathan
doaj   +1 more source