Results 61 to 70 of about 41,875 (218)

Case report: Coexistence of Jacobs syndrome, congenital adrenal hyperplasia, and ambiguous genitalia in a male infant

open access: yesClinical Case Reports, 2023
Key Clinical Message Jacobs syndrome and congenital adrenal hyperplasia are separate entities but share common clinical features such as ambiguous genitalia.
Qaisar Ali Khan   +9 more
doaj   +1 more source

The Use of Routine Laboratory 17‐Hydroxyprogesterone for Identification of Cases of 21‐Hydroxylase Deficiency Congenital Adrenal Hyperplasia

open access: yesClinical Endocrinology, EarlyView.
ABSTRACT Background Clinical outcome studies of 21‐hydroxylase deficiency congenital adrenal hyperplasia (21OHD CAH) may be subject to selection bias due to incomplete case ascertainment. This study aimed to develop a methodology for identifying existing CAH cases and explore its utility to study clinical outcomes. Methods 17‐hydroxyprogesterone assays
Joseph McElvaney   +7 more
wiley   +1 more source

Tryptophan Suppresses FTH1‐Driven Ferritinophagy, a Key Correlate of Prognosis in Hepatocellular Carcinoma

open access: yesCell Proliferation, EarlyView.
Intracellular tryptophan levels modulate selective autophagy of FTH1 via the NCOA4 pathway. This autophagic process then inhibits 6‐HMT synthesis, which then results in an increase in reactive oxygen species and ferroptosis. ABSTRACT Hepatocellular carcinoma (HCC) remains a lethal malignancy with limited therapeutic options.
Xinxiang Cheng   +10 more
wiley   +1 more source

Adrenal Tumor Mimicking Non-Classic Congenital Adrenal Hyperplasia

open access: yesFrontiers in Endocrinology, 2020
Elevated 17-hydroxyprogesterone may be caused by congenital adrenal hyperplasia, ovarian or adrenal tumors. A positive cosyntropin stimulation test result for 17-hydroxyprogesterone may be found in functional or non-functional tumors and be related to ...
Wen-Hsuan Tsai   +5 more
doaj   +1 more source

The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency

open access: yesFrontiers in Endocrinology, 2019
The deficiency of 21-hydroxylase due to CYP21A2 pathogenic variants is a rather frequent disease with serious consequences, going from a real mortality risk to infertility and to milder symptoms, nevertheless important for affecting the patients' self ...
D. Pignatelli   +5 more
semanticscholar   +1 more source

Exploring the Role of Kisspeptin in Polycystic Ovary Syndrome and Its Associated Pregnancy Complications

open access: yesObesity Reviews, EarlyView.
ABSTRACT Polycystic ovary syndrome (PCOS) is a common endocrine disorder with a complex pathogenesis that includes disordered follicle development, hypothalamic–pituitary–ovarian (HPO) axis dysfunction, hyperandrogenemia, and insulin resistance. The risk of complications during pregnancy, such as gestational diabetes mellitus (GDM) and preeclampsia (PE)
Shaohua Zhang   +5 more
wiley   +1 more source

Predicted Adult Height Remained Normal in Children With Premature Adrenarche Despite Advanced Bone Age

open access: yesActa Paediatrica, Volume 114, Issue 12, Page 3258-3266, December 2025.
ABSTRACT Aim Aetiological factors affecting the phenotype of adrenarche are largely unknown. This study investigated the phenotypic variability of premature adrenarche. Methods In this cross‐sectional retrospective registry study, data on 91 mainly Caucasian children diagnosed with premature adrenarche were retrieved from patient records.
Eetu Kanniainen   +2 more
wiley   +1 more source

Insulin Resistance in Congenital Adrenal Hyperplasia is Compensated for by Reduced Insulin Clearance [PDF]

open access: bronze, 2021
Daniel Minutti de Oliveira   +8 more
openalex   +1 more source

Germ cell and other tumors in individuals with differences in sex development

open access: yesCA: A Cancer Journal for Clinicians, Volume 75, Issue 6, Page 587-601, November/December 2025.
Abstract Approximately one in 3500 to one in 5100 live‐born infants have atypical external genital development, known as differences in sex development (DSD). In 2005, an expert consensus conference thoroughly reviewed aspects of health care for individuals with DSD.
Selma Feldman Witchel   +1 more
wiley   +1 more source

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