Results 11 to 20 of about 2,046,767 (198)

Early development of a gonadal tumor in a patient with mixed gonadal dysgenesis [PDF]

Archives of Endocrinology and Metabolism, 2018
SUMMARY A gonadal tumor was diagnosed in the first months of life in a patient with genital ambiguity, a 45,X/46,XY karyotype, and mixed gonadal dysgenesis.
Sarah Crestian Cunha, Juliana Gabriel Ribeiro de Andrade, Camila Matsunaga de Angelis, Athanase Billis, Joaquim Murray Bustorff-Silva, Andréa Trevas Maciel-Guerra, Márcio Lopes Miranda, Gil Guerra-Júnior   +7 more
doaj   +4 more sources

Single-Center Experience in Patients with Mixed Gonadal Dysgenesis

Turkish Archives of Pediatrics
Objective: Mixed gonadal dysgenesis (MGD) is an uncommon chromosomal Disorder of Sexual Development (DSD). There is insufficient information regarding clinical findings and growth patterns. This study aimed to provide more information about mixed gonadal
Ebru Barsal Çetiner, Zeynep Donbaloğlu, Berna Singin, Bilge Aydın Behram, Kürşat Çetin, Güngör Karagüzel, Hale Tuhan, Mesut Parlak   +7 more
doaj   +2 more sources

Mixed gonadal dysgenesis in Yaoundé: A preliminary experience about three cases

African Journal of Paediatric Surgery, 2016
Mixed gonadal dysgenesis is characterised by unilateral chromosomal abnormality, which is probably the result of anaphase lag during mitosis. The 45, XO/46, XY karyotype is the most common form of mosaicism involving the Y chromosome.
F F Mouafo Tambo, S Dahoun, C Kamadjou, A S Nwaha Makon, G Fossi, O G Andze, M A Sosso, P Y Mure   +7 more
doaj   +2 more sources

A Rare Cause of Male Infertility: Mixed Gonadal Dysgenesis

Endocrinology Research and Practice
Infertility is a significant health problem that affects many couples in the reproductive age range globally. While only the male factor is responsible for 20%-30% of cases of infertility, contributing to a further 20%.
Ceren Erdoğan Eroğlu, Süheyla Görar, Barış Paksoy   +2 more
doaj   +4 more sources

Hemoptysis: A rare presentation of mixed gonadal dysgenesis

Journal of Human Reproductive Sciences, 2020
The objective of the study was to present a case report on a phenotypic male mixed gonadal dysgenesis (MGD) who presented with hemoptysis due to secondary lung metastasis from dysgerminoma.
Darvin V Das, P K Jabbar, Ramesh Gomez, T P Seena   +3 more
doaj   +3 more sources

Germ Cell Tumors in 46, XY Gonadal Dysgenesis

Indian Journal of Endocrinology and Metabolism
Introduction: To present the clinical data, investigative profile, management, and follow-up of patients with 46, XY gonadal dysgenesis with germ cell tumors from the endocrine unit of a tertiary care university hospital.
Raiz A Misgar, Sajad U Islam Mir, Mohmad H Mir, Mir I. Bashir, Arshad I. Wani, Shariq R. Masoodi   +5 more
doaj   +2 more sources

Genetically Confirmed Osteogenesis Imperfecta (COL1A1) With Unexplained Ambiguous Genitalia in a 46,XY Child: An Index Case Report. [PDF]

Clin Case Rep
A 6‐year‐old child with a rare dual diagnosis confirmed by genetic testing ‐ osteogenesis imperfecta (blue sclerae, disproportionate short stature) and concurrent 46,XY disorder of sex development (micropenis, hypospadias, impalpable gonads). ABSTRACT Osteogenesis imperfecta (OI) is a heritable disorder of type I collagen characterized by bone ...
Agarwal H, Jha T, Azmi MO, Sarkar S, Suresh V.   +4 more
europepmc   +2 more sources

Gonadoblastoma Arising in Undifferentiated Gonadal Tissue within Dysgenetic Gonads [PDF]

, 2006
Purpose: The purpose of the study was to define the histological origin of gonadoblastomas, allowing the identification of high-risk patients. Experimental Design: Sixty paraffin-embedded gonadectomy or gonadal biopsy samples of 43 patients with ...
Kula, Krzysztof, Looijenga, L. H. J., Wolffenbuttel, K. P., Cools, Martine, Slowikowska-Hilczer, J., Slowikowska-Hilczer, Jolanta, Cools, M., Bourguignon, Jean-Pierre, Stoop, Hans, Drop, S. L. S., Oosterhuis, J. W., Kersemaekers, A. M. F., Faradz, S. M. H., Wolffenbuttel, Katja P, Stoop, H., Kula, K., Bourguignon, JP, Looijenga, LHJ, Slowikowska-Hilczer, J. (Jolanta), Slowikowska-Hilzcer, J, Kersemaekers, AMF, Stoop, H, Looijenga, L.H.J. (Leendert), Cools, M.B.C.M. (Martine), Cools, MBC, Drop, SLS, Faradz, SMH, Kula, K. (Krzysztof), Wolffenbuttel, K.P. (Katja), Oosterhuis, Wolter, Slowikowska-Hilczer, J, Drop, S.L.S. (Stenvert), Faradz, S, Kula, K, Stoop, J.A. (Hans), Wolffenbuttel, Katja, Kersemaekers, AM, Looijenga, LHJ (Leendert), Kersemaekers, A.M. (Anne-Marie), Wolffenbuttel, KP, Oosterhuis, J.W. (Wolter), Faradz, S.M.H. (Sultana), Oosterhuis, JW, Bourguignon, J.-P. (J.), Drop, Sten, Looijenga, Leendert H. J, Oosterhuis, J. Wolter, Faradz, Sultana M.H., Drop, Stenvert L. S, Kersemaekers, Anne-Marie F.   +49 more
core   +3 more sources

Advanced-Stage Gonadal Dysgerminoma in a Patient With a Previous Diagnosis of Familial Swyer Syndrome: A Very Rare Genetic Entity. [PDF]

Case Rep Med
Introduction Swyer syndrome is a genetic abnormality characterized by a 46,XY karyotype in a phenotypically female individual. Affected individuals typically have average or tall stature, unambiguous genitalia at birth, the presence of Müllerian structures, and bilateral streak gonads.
Oğlak SC, Söğütçü N, Akgöl S, Adıgüzel Ö, Ateş Eminoğlu HE, Güzel G, Balcı V, Acar E, Acar A, Bozan F.   +9 more
europepmc   +2 more sources

Denys-Drash Syndrome by <i>WT1</i> Gene: Clinical Variability and Management Challenges in Two Saudi Infants. [PDF]

Case Rep Endocrinol
Background Denys‐Drash syndrome (DDS) is a rare genetic disorder characterized by mutations in the Wilms tumor suppressor gene (WT1), leading to a triad of conditions including nephrotic syndrome progressing to end‐stage renal disease (ESRD), Wilms tumor, and ambiguous genitalia.
Al-Amoudi W, Alhuthil R, Alnwiji A, Alqarni MS, Murad S, Alsagheir A.   +5 more
europepmc   +2 more sources