Results 11 to 20 of about 233,196 (250)

Prenatal ultrasound finding of atypical genitalia: Counseling, genetic testing and outcomes [PDF]

, 2022
Objective: To report uptake of genetic counseling (GC) and prenatal genetic testing after the finding of atypical genitalia on prenatal ultrasound (US) and the clinical and genetic findings of these pregnancies.
Arianne B. Dessens, Hennie T. Bruggenwirth, Karin E. M. Diderich, Dessens, Arianne B., van Bever, Yolande, Hoefsloot, Lies H., Srebniak, Malgorzata, Sabine E. Hannema, Lies H. Hoefsloot, Knapen, Maarten F. C. M., Maarten F. C. M. Knapen, Srebniak, Malgorzata I., Groenenberg, Irene A. L., Hannema, Sabine E., Wolffenbuttel, Katja P., Katja P. Wolffenbuttel, Diderich, Karin E. M., Irene A. L. Groenenberg, Malgorzata I. Srebniak, Bruggenwirth, Hennie T., Yolande van Bever   +20 more
core   +2 more sources

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Categorization of differences of sex development among Egyptian children and the role of antimullerian hormone and inhibin B

Frontiers in Endocrinology, 2023
BackgroundDifferences of sex development (DSD) are congenital conditions linked to atypical development of chromosomal, gonadal, or anatomical sex.ObjectiveThe aim of this study was to demonstrate our experiences at the Diabetes Endocrine and Metabolism ...
Shereen Abdelghaffar, Engy Nasr AbdelMoneam, Samah A. Hassanein, Noha Abdelhalim Radwan, Marwa Farouk Mira   +4 more
doaj   +1 more source

Partial androgen insensitivity syndrome: Incidentally diagnosed in an adolescent

Indian Pediatrics Case Reports, 2023
Background: Androgen insensitivity syndrome is an X-linked genetic disease characterized by resistance to the actions of androgen in an individual with 46, XY karyotype. It is one of the most common causes of Disorders of sex development (DSD).
A J Aparna, I Riaz, V H Sankar, Devakumar Vasanthiamma Krishnannair   +3 more
doaj   +1 more source

The External Genitalia Score (EGS): A European multicenter validation study. [PDF]

, 2019
CONTEXT Standardized description of external genitalia is needed in the assessment of children with atypical genitalia. OBJECTIVES To validate the External Genitalia Score (EGS), to present reference values for preterm and term babies up to 24 ...
Ahmed, S Faisal, Smets, Koenraad, Desloovere, An, Busch, Alexander Siegfried, Cools, Martine, Ljubicic, Marie Lindhardt, Smets, Koen, Szeliga, Kamila, Flück, Christa E., Tack, Lloyd, Zecic, Aleksandra, Hebenstreit, Doris, Wolffenbuttel, Katja KP, Flück, Christa E, Debulpaep, Sara, Wolffenbuttel, Katja P., Nordenström, Anna, Wolffenbuttel, Katja P, Tonnhofer, Ursula, Springer, Alexander, Cools, Martine B C M M., Ahmed, S. Faisal, Calafiore, Mariarosa, Hannema, Sabine SE, Hiort, Olaf, Sigurdsson, Jon, Gawlik, Aneta, Juul, Anders, Hannema, Sabine E., Hannema, Sabine E, Baumert, Malgorzata, Haamberg, Tanja, van der Straaten, Saskia, Wasniewska, Malgorzata, Corica, Domenico, Graf, Stefanie   +35 more
core   +4 more sources

Cloaca with duplicated phallus – A case report

Journal of Pediatric Surgery Case Reports, 2016
A child born with atypical genitalia constitutes a medico-social emergency, a multidisciplinary team constituting a pediatric endocrinologist, pediatric surgeon and a psychologist has to be convened.
Pradnya Bendre, Nitin Palse, Flavia D'Souza   +2 more
doaj   +1 more source

Demographic risk factors for classical and atypical scrapie in Great Britain [PDF]

, 2007
Following the bovine spongiform encephalopathy (BSE) crisis, the European Union has introduced policies for eradicating transmissible spongiform encephalopathies (TSEs), including scrapie, from large ruminants. However, recent European Union surveillance
Noel D McCarthy (16058201), Green, Darren, McCarthy, N.D., Kao, Rowland R, Kao, RR, del Rio Vilas, V.J., Kiss, I.Z., del Rio Vilas, Victor J, Kiss, IZ, del Rio Vilas, VJ, McCarthy, Noel D, Colin P D Birch (16058198), Darren M Green (16058192), Jethro Johnson (12099290), Kao, R.R., Victor J del Rio Vilas (16058195), Green, D.M., Johnson, J., McCarthy, ND, Istvan Kiss (4462126), Kiss, Istvan Z, Johnson, Jethro, Birch, CPD, Green, DM, Johnson, J, Birch, CP, Rowland R Kao (16058204), Birch, C.P.D., Birch, Colin P D   +28 more
core   +1 more source

Newborn Screening for Congenital Hypothyroidism and Congenital Adrenal Hyperplasia in Egypt [PDF]

Annals of Neonatology Journal, 2023
Two disorders, congenital adrenal hyperplasia (CAH) and congenital hypothyroidism (CH), when untreated, can lead to devastating, irreversible and fatal outcomes.
Noura El-Bakry
doaj   +1 more source

Malaysian Females With Congenital Adrenal Hyperplasia: Surgical Outcomes and Attitudes

Frontiers in Pediatrics, 2019
Background: Girls born with congenital adrenal hyperplasia have virilized external genitalia. There is considerable debate regarding both the outcomes of feminizing genitoplasty and timing of the surgery in this population.Objective: To investigate ...
Ani Amelia Zainuddin, Sonia Regina Grover, Chong Hong Soon, Abdul Ghani Nur Azurah, Zaleha Abdullah Mahdy, Loo Ling Wu, Rahmah Rasat, Fatimah Harun, Wee Yan Chia, Khadijah Shamsuddin   +9 more
doaj   +1 more source

An unusual case of isolated unilateral palmar lichen nitidus

Indian Journal of Paediatric Dermatology, 2022
Lichen nitidus (LN) is a benign chronic eruption characterized by numerous asymptomatic papules on the body, clustered at specific sites of predilection like the dorsum of hands, abdomen, and genitalia. A 10-year-old boy presented to us with asymptomatic
Shreya Singh, Kinjal Rambhia, Meena B Makhecha   +2 more
doaj   +1 more source