Results 71 to 80 of about 2,537 (222)

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B ‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, Volume 197, Issue 9, September 2025.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

Magnetic resonance neurographic confirmation of extensive Plexiform neurofibroma in neurofibromatosis-1 presenting as ambiguous genitalia

Indian Journal of Radiology and Imaging, 2016
Genitourinary involvement of neurofibromatosis is uncommon and genital neurofibromatosis is even rarer. Involvement of clitoris by neurofibroma can lead to clitoromegaly masquerading as a male penis.
Ishan Kumar, Ashish Verma, Ritu Ojha, Priyanka Aggarwal, Ram C Shukla, Arvind Srivastava   +5 more
doaj   +1 more source

Fraser Syndrome: case report in lacrimal system [PDF]

, 2014
Fraser syndrome is a systemic condition characterized by cryptophthalmos, syndactyly and abnormal genitalia, which may be associated with urinary tract, ear, nose, larynx and skeletal abnormalities.
Briceño, César Augusto, Gonçalves, Eliana Domingues, Jablinski, Cláudio Enrique Cuadros, Lorena, Silvia Helena Tavares, Machado, Marco Antonio de Campos, Silva, João Amaro Ferrari   +5 more
core   +3 more sources

Prenatal Diagnosis of Horseshoe Lung: A Report of Three Cases and Review of the Literature

Prenatal Diagnosis, Volume 45, Issue 8, Page 1027-1038, July 2025.
ABSTRACT Objective Horseshoe lung is a rare congenital malformation in which the lungs are fused by a parenchymal isthmus. The current literature is very limited regarding cases of prenatal diagnosis and their outcome. Method We retrospectively examined three cases of fetuses with horseshoe lung diagnosed antenatally in our center from 2015 to 2024 ...
Benjamin Birene, Paul Maurice, Catherine Garel, Blandine Prevost, Yohan Soreze, Maud Chabaud, Jean‐Marie Jouannic   +6 more
wiley   +1 more source

Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing

Molecular Genetics &Genomic Medicine, Volume 13, Issue 6, June 2025.
The overall genotype–phenotype concordance was found to be 73.1% (68/93). The expected concordance with the SW form of the null (n = 12) and A (n = 51) groups is 91.6% and 88.2%, respectively. While the percentage of the expected clinical form of SV in patients in group B (n = 5) was 80%, the concordance for the expected clinical form of NC for group C
Nurgul Atas, Murat Karaoglan, Gülper Nacarkahya   +2 more
wiley   +1 more source

Isolated Vascular Malformation of the Clitoris: An Uncommon Cause of Clitoromegaly

African Journal of Paediatric Surgery
Clitoral enlargement (clitoromegaly) due to non-hormonal causes, particularly due to vascular malformation, is rare. Only eight such cases are reported in the literature.
Asjad Karim Bakhteyar, Zamurrad Parveen, Sandip Kumar Rahul   +2 more
doaj   +1 more source

Noninvasive Assessment of Stress and Reproduction in Captive Lions (Panthera leo) Using Fecal Hormone Analysis

Zoo Biology, Volume 44, Issue 3, Page 248-261, May/June 2025.
ABSTRACT Assessing steroid hormones through feces provides invaluable insight on the stress and reproductive physiology of wildlife, and has been broadly applied to monitor the health and welfare of wild animals managed under human care. This study utilized fecal hormone monitoring to evaluate adrenal and gonadal activity in 18 captive lions (Panthera ...
Paula Serres‐Corral, Vanessa Almagro, Conrad Ensenyat, Loles Carbonell, Santiago Borragán, Eva Martínez‐Nevado, Miguel Angel Quevedo, Hugo Fernández‐Bellon, Annaïs Carbajal, Manel López‐Béjar   +9 more
wiley   +1 more source

Leydig Cell Tumour and Mature Ovarian Teratoma: Rare Androgen-Secreting Ovarian Tumours in Postmenopausal Women [PDF]

, 2016
Androgen-secreting ovarian tumours are extremely rare accounting for
Agapito, A, Cortez, L, Palha, A, Tavares, AP   +3 more
core   +1 more source

The development of the external genitals in female human embryos and foetuses. Part 1: Perineal thick skin, clitoris and labia

Journal of Anatomy, Volume 246, Issue 2, Page 190-204, February 2025.
The peri‐urogenital thick skin induces the formation of sex‐hormone‐sensitive endodermal and mesenchymal structures, and striated muscles. Endoderm and mesenchyme mutually exchange sex‐hormone‐dependent differentiative signals. Whether these signals also affect subcutaneous muscle development is not yet known.
Cindy J. M. Hülsman, Hui Gao, Nutmethee Kruepunga, Greet M. C. Mommen, S. Eleonore Köhler, Jill P. J. M. Hikspoors, Wouter H. Lamers   +6 more
wiley   +1 more source

Clitoral choristoma: A rare case report

Journal of Indian Association of Pediatric Surgeons, 2017
Clitoral hypertrophy is usually seen as a congenital malformation, specifically during the stages of hormonal expressions in the disorders of sexual development. Acquired clitoral hypertrophy is a relatively rare condition.
Jayalaxmi Shripati Aihole, Hemalatha Lokanath, M Narendra Babu, J Deepak   +3 more
doaj   +1 more source