Results 101 to 110 of about 5,009 (204)

Understanding the needs of professionals who provide psychosocial care for children and adults with disorders of sex development [PDF]

, 2017
Objective: Disorders in sex development (DSD) can be treated well medically, but families will encounter many psychosocial challenges. Promoting counselling to facilitate acceptance and coping is important yet equality of access is unknown.
Ahmed, S. Faisal, Bryce, Jillian, Dessens, Arianne, Ediati, Annastasia, Guaragna-Filho, Guilherme, Hiort, Olaf, Iotova, Violeta, Juul, Anders, Krawczynski, Maciej, Kyriakou, Andreas, Nordenskjöld, Agneta, Rozas, Marta, Sanders, Caroline   +12 more
core   +7 more sources

The gut‐microbiota‐brain axis: Focus on gut steroids

Journal of Neuroendocrinology, Volume 37, Issue 7, July 2025.
Abstract There are over 1000 varieties of steroids that have been reported in nature, including the endogenous sex steroid hormones (i.e., progesterone, testosterone, and 17β‐estradiol) and corticosteroids which are mainly synthesized by gonads and adrenals, respectively.
Silvia Diviccaro, Silvia Giatti, Lucia Cioffi, Gabriela Chrostek, Roberto Cosimo Melcangi   +4 more
wiley   +1 more source

A Rare Case of Co-occurrence of Multiple Endocrine Neoplasia Syndrome and Congenital Adrenal Hyperplasia

Ожирение и метаболизм
Multiple endocrine neoplasia type 1 (MEN1) and congenital adrenal hyperplasia (CAH) are rare monogenic hereditary endocrinopathies with a prevalence of 1–9 cases per 100,000 and 9–15 cases per 100,000, respectively.
A. S. Bondarenko, E. O. Mamedova, Zh. E. Belaya, G. A. Melnichenko   +3 more
doaj   +1 more source

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort [PDF]

, 2016
BACKGROUND: Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often difficult and currently only 13% of patients receive an accurate clinical genetic ...
Bergman, P., Bouty, A., Brown, J., Cameron, F., Eggers, S., et al., Grover, S., Heloury, Y., Hewitt, J., Hutson, J., Kimber, C., Knarston, I., Lambeth, L., O'Connell, M., Ohnesorg, T., Robevska, G., Sadedin, S., Tan, T., van den Bergen, J., Werther, G., Zacharin, M.   +20 more
core   +1 more source

Corrigendum: A Rare Case of Co-occurrence of Multiple Endocrine Neoplasia Syndrome and Congenital Adrenal Hyperplasia. (Obesity and metabolism. 2024;21(1):79-84. doi: https://doi.org/10.14341/omet13015)

Ожирение и метаболизм
A corrigendum on "A Rare Case of Co-occurrence of Multiple Endocrine Neoplasia Syndrome and Congenital Adrenal ­Hyperplasia" by Axenia S. Bondarenko, Elizaveta O. Mamedova, Zhanna E. Belaya, Galina A. Melnichenko (2024). Obesity and metabolism. 2024;21(1)
A. S. Bondarenko, E. O. Mamedova, Zh. E. Belaya, G. A. Melnichenko   +3 more
doaj   +1 more source

A novel 9-bp insertion detected in steroid 21-hydroxylase gene (CYP21A2): prediction of its structural and functional implications by computational methods

Journal of Biomedical Science, 2009
Background Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH). Detection of underlying mutations in CYP21A2 gene encoding steroid 21-hydroxylase enzyme is helpful both for confirmation of diagnosis and ...
Varma R Raveendra, Saravanan Chinnaraj, Anwaruddin Mohammad, Idicula-Thomas Susan, Dubey Sudhisha, Maitra Anurupa   +5 more
doaj   +1 more source

Sex assignment in conditions affecting sex development [PDF]

, 2017
The newborn infant with atypical genitalia presents a challenging clinical scenario and requires expert input. There have been appreciable advances in our knowledge of the underlying causes that may lead to a mere difference or a more serious disorder of
Ahmed, S. Faisal, Markosyan, Renata
core   +1 more source

CYP21A2 Intron 2 Genetic Variants Might Be Associated with the Clinical Characteristics of Women with PCOS

Biomedicines
Aims: Pathogenic variants in the CYP21A2 gene are related to the classic and non-classic forms of congenital adrenal hyperplasia (CAH). However, the role of CAH carrier status in the clinical presentation of polycystic ovarian syndrome (PCOS) is still ...
Ralitsa Robeva, Silvia Andonova, Tihomir Todorov, Aylin Feyzullova, Atanaska Elenkova, Georgi Kirilov, Alexey Savov, Sabina Zacharieva, Albena Todorova   +8 more
doaj   +1 more source

Data on the functional consequences of the mutations identified in 21-Hydroxylase deficient CAH patients

Data in Brief, 2018
This article presents the data set regarding the functional characterization of mutations in CYP21A2 gene in CAH patients as described in “Functional characterization and molecular modeling of the mutations in CYP21A2 gene from patients with Congenital ...
Ragini Khajuria, Rama Walia, Anil Bhansali, Rajendra Prasad   +3 more
doaj   +1 more source

Increased cardiovascular and metabolic morbidity in patients with 21-hydroxylase deficiency : a Swedish population-based national cohort study [PDF]

, 2017
CONTEXT: Congenital adrenal hyperplasia (CAH) is lethal in its most severe forms if not treated with glucocorticoids. However, glucocorticoids may increase the risk of cardiovascular and metabolic morbidity.
Almqvist, Catarina, Falhammar, Henrik, Frisén, Louise, Hirschberg, Angelica L., Nordenskjöld, Agneta, Nordenström, Anna, Norrby, Christina   +6 more
core   +1 more source