Results 81 to 90 of about 41,875 (218)

Elevating and empowering reproductive futures: Pediatric and adolescent gynecology's specialized care across the globe

International Journal of Gynecology &Obstetrics, Volume 171, Issue 2, Page 528-537, November 2025.
Abstract Pediatric and adolescent gynecology (PAG) is an expanding subspecialty of obstetrics and gynecology that addresses the reproductive health needs of girls and young women worldwide. In regions with limited subspecialist healthcare providers, general obstetricians, gynecologists, and nurse‐midwives, frontline healthcare providers provide ...
Nichole A. Tyson, Méabh Ní Bhuinneáin, Hema Divakar, Lauren Mauger, Judith Simms Cendan, Marisa Labovsky, FIGO Committee on Adolescent and Youth Health   +6 more
wiley   +1 more source

Congenital Lipoid Adrenal Hyperplasia, as a Poorly Understood Cause of 46 XY Sexual Differentiation Disorder

Case Reports in Endocrinology
Summary. Disorders of sexual differentiation are defined as congenital alterations between chromosomal, gonadal, and phenotypic sex. The principal cause of these disorders is an adrenal origin; however, there are infrequent causes, such as congenital ...
Raúl Villanueva Rodríguez, Alberto Vielma Valdez, Maricruz Cassou Martinez, Laura Leticia Pérez Corrales, Ramón G. de los Santos Aguilar, Luis David Sol Oliva   +5 more
doaj   +1 more source

Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Tyrosine hydroxylase (TH) catalyses the rate‐limiting step in dopamine biosynthesis. Autosomal recessive tyrosine hydroxylase deficiency (THD) leads to clinical phenotypes reflecting the deficiency of dopamine, norepinephrine, or epinephrine in the central nervous system (CNS), presenting along a continuous spectrum from mild to severe forms ...
Mariya Sigatullina Bondarenko, Oya Kuseyri Hübschmann, Jan Kulhánek, Roser Pons, Toni S. Pearson, Kathrin Jeltsch, Ivana Badnjarevic, Tessa Wassenberg, Gabriella Horvath, Galina Stevanovic, Manju A. Kurian, Elisenda Cortès‐Saladelafont, Agathe Roubertie, Vincenzo Leuzzi, Mariarita Bertoldi, Mario Mastrangelo, Birgit Assmann, THD Guidelines Working Group, Ines Denzler, Clarisa Maxit, Natalia Alexandra Julia‐Palacios, Shekeeb Mohammad, Helly Goez, Wai‐Ian Yeung, Tomáš Honzík, Ivana Kavecan, Alba Tristán Noguero, Alberto Burlina, Daniela Gueraldi, Sushil Bandodkar, Willemsen Michel, Francesco Porta, Sheila Wong, Filippo Manti, Reem Alkhater, Chris Mühlhausen, Alice Kuster, Dimitrios Zafeiriou, Paulo Sgobbi, Wladimir Bocca Vieira de Rezende Pinto, Angeles Garcia‐Cazorla, Thomas Opladen   +41 more
wiley   +1 more source

Klitoroplastika in congenital adrenal hyperplasia

Андрология и генитальная хирургия, 2014
Given observation successful klitoroplastika by the original method in a patient with congenital adrenal hyperplasia and klitoromegalia.
V. V. Mikhaylichenko, V. N. Fesenko, A. I. Novikov, O. A. Murtazaaliev   +3 more
doaj   +3 more sources

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, Seyyedeh Azade Hoseini Nouri, Ameneh Sharifi, Reza Bayat, Saeid Talebi, Shahram Savad, Nazanin Medghalchi, Bahareh Rabbani, Nejat Mahdieh   +8 more
wiley   +1 more source

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

Definitions, 2019
Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is one of a group of disorders (collectively called congenital adrenal hyperplasia) that affect the adrenal glands.
H. Pişkinpaşa, S. Doğanşen, Ilkay Cakir, Y. Akdeniz, A. Esen, Evin Bozkur, M. Mert   +6 more
semanticscholar   +1 more source

Prenatal Metabolomics Analysis and Fetal Congenital Anomalies and Genetic Conditions: A Review of Current Literature

Prenatal Diagnosis, Volume 45, Issue 12, Page 1544-1558, November 2025.
ABSTRACT Fetal congenital anomalies and genetic disorders complicate 3%–5% of pregnancies and can have a significant impact on pregnancy outcomes. Precise and individualized prenatal diagnosis is crucial for effective counseling and management.
Sarah Araji, Onur Turkoglu, Mohamad Ali Maktabi, Tracy Ashby, Ignatia B. Van den Veyver   +4 more
wiley   +1 more source

Increased Prevalence of Fractures in Congenital Adrenal Hyperplasia: A Swedish Population-based National Cohort Study [PDF]

, 2021
Henrik Falhammar, Louise Frisén, Angelica Lindén Hirschberg, Agneta Nordenskjöld, Catarina Almqvist, Anna Nordenström   +5 more
openalex   +1 more source

A Neonate Presenting with Severe Dehydration - A Case of Congenital Adrenal Hyperplasia with Salt Losing Crisis

Journal of Nepal Medical Association
Congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder caused by mutations in genes involved in cortisol biosynthesis in the adrenal gland. Depending on the enzymatic defect, the symptoms, signs, and laboratory findings differ.
Anita Lamichhane, Rekha Phuyel, Manish Upreti, Ramesh Khadka   +3 more
doaj   +1 more source

Massive adrenal incidentalomas and late diagnosis of congenital adrenal hyperplasia in prostate cancer

Endocrinology, Diabetes & Metabolism Case Reports, 2017
In a 61-year-old Caucasian male with prostate cancer, leuprolide and bicalutamide failed to suppress the androgens. He presented to endocrinology with persistently normal testosterone and incidental massive (up to 18 cm) bilateral adrenal myelolipomas ...
Xin Feng, Gregory Kline
doaj   +1 more source