Results 51 to 60 of about 1,685 (160)
An Intronic Variant in CDKN1C Gene Causing IMAGe Syndrome in an Iranian Girl
Molecular Genetics &Genomic Medicine, Volume 13, Issue 11, November 2025.A novel intronic CDKN1C variant (c.787+4A>T) was identified in an Iranian girl with IMAGe syndrome, expanding its genetic spectrum. This finding highlights the importance of whole‐exome sequencing for diagnosing rare disorders and managing life‐threatening adrenal insufficiency. ABSTRACT Introduction IMAGe syndrome, a rare disorder caused by maternally
Setila Dalili +8 more
wiley +1 more source
Society for Endocrinology Clinical Practice Guideline for the Evaluation of Androgen Excess in Women
Clinical Endocrinology, Volume 103, Issue 4, Page 540-566, October 2025.ABSTRACT Context Androgen excess is common in women and refers to clinical or biochemical evidence of elevated androgenic steroids such as testosterone. It is associated with underlying polycystic ovary syndrome in the majority of cases. However severe androgen excess is less common and may indicate the presence of underlying adrenal or ovarian ...
Yasir S. Elhassan +14 more
wiley +1 more source
Isolated Vascular Malformation of the Clitoris: An Uncommon Cause of Clitoromegaly
African Journal of Paediatric SurgeryClitoral 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 +2 more
doaj +1 more source
Transient clitoromegaly in an extremely preterm twin infant with popliteal pterygium
Pediatric Endocrinology, Diabetes and MetabolismClitoromegaly can be congenital or acquired, and it is usually associated with exposure to androgen excess. Pathophysiological mechanisms responsible for transient clitoromegaly in premature female infants have not been fully elucidated.
Lavinia La Grasta Sabolić +4 more
doaj +1 more source
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 +12 more
wiley +1 more source
Long-term Complications of Female Genital Mutilation - Clitoral Epidermoid Inclusion Cyst
Bagcilar Medical BulletinThis case study critically examines the long-term detrimental effects of female genital mutilation (FGM), specifically focusing on the development of clitoral epidermoid inclusion cysts.
Hilal Aktürk +4 more
doaj +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 +3 more
doaj +1 more source
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 +6 more
wiley +1 more source
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 +2 more
wiley +1 more source
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 +9 more
wiley +1 more source