December 2022 in “Archives of Clinical Trials” In this case series study, mild ovarian hyperstimulation syndrome was reported in only one out of 118 PCOS patients receiving highly purified HMG injections for IVF treatment.
3 citations
,
September 2013 in “Journal of the American Academy of Dermatology” This report details two patients with Hutchinson-Gilford Progeria syndrome who exhibited generalized shiny skin in infancy and had a novel mutation in the LMNA gene.
This study found that CMV infection in a mouse model of allogeneic transplantation was associated with increased allo-reactive T cell expansion and exacerbated graft-versus-host disease, highlighting the need for effective GvHD prophylaxis and treatment.
October 2007 in “Clinical Biochemistry” This study identified a new genotype, V281+I172N/V281L, linked to non-classical 21-hydroxylase deficiency, suggesting it should be considered in genetic panels for the condition.
2 citations
,
January 2021 in “American Journal of Case Reports” This case report details a 13-year-old Thai boy with Hutchinson-Gilford progeria syndrome, who presented with cardiovascular complications, including coronary artery calcification and non-ST-segment elevation myocardial infarction.
2 citations
,
March 2003 in “Endocrine Practice” The woman's symptoms and tests suggest her adrenal glands are producing too many male hormones.
117 citations
,
May 2017 in “Human Reproduction Update” This review examines the epidemiology, pathophysiology, diagnosis, and management strategies for non-classic congenital hyperplasia due to 21-hydroxylase deficiency, and provides evidence-based recommendations for its treatment and genetic counseling.
12 citations
,
May 2003 in “Journal of dermatological science” This study found that the heat shock cognate protein Hsc70 was differentially expressed by dihydrotestosterone treatment in SV40-transformed dermal papilla cells, suggesting its involvement in androgen action on these cells.
10 citations
,
November 2019 in “Neuroendocrinology” This study shows that measuring 17-hydroxyprogesterone concentrations in scalp hair may be a useful noninvasive tool for monitoring treatment in adults with congenital adrenal hyperplasia.
4 citations
,
August 2006 in “The Journal of Dermatology” This case report describes the first known association of hypertrichosis lanuginosa acquisita with autoimmune hepatitis, expanding the list of conditions linked to this rare disorder.
April 2015 in “Andrology” This special issue contains abstracts from the ASA 40th Annual Meeting, providing an overview of various studies without reporting new primary results.
14 citations
,
August 2009 in “Cancer epidemiology” This study found that AHCC significantly reduced alopecia caused by Ara-C in neonatal rats and improved liver function affected by 6-MP and MTX in mice.
67 citations
,
September 2008 in “Dermatologic therapy” This paper reviews causes of hirsutism in women and emphasizes the importance of identifying underlying conditions for risk assessment, though it reports no new clinical findings.
6 citations
,
June 2016 in “Journal of cellular biochemistry” This study found that the mammalian Hr protein can interact with the p53 pathway by binding to a specific p53 response element, influencing the regulation of genes involved in cell cycle control.
5 citations
,
October 2017 in “JOGC/Journal of obstetrics and gynaecology Canada” This review discusses the causes and management of hirsutism and suggests improvement can be achieved with a combination of hair removal, suppression of androgen production, and lifestyle changes over 6 to 9 months.
53 citations
,
October 1984 in “Endocrine reviews” This review highlights that idiopathic hirsutism is characterized by local hyperandrogenization affecting hair growth, without other signs of hyperandrogenism, and shows no new results; racial differences in prevalence are noted but not in androgenic steroids.
1 citations
,
September 2023 in “Frontiers in Genetics” This study presents a rare case where a patient with a heterozygous mutation in the HTRA1 gene, typically considered non-pathogenic, exhibited severe symptoms and typical features of CARASIL, expanding the understanding of this condition.
5 citations
,
April 2011 in “The Lancet” This case report describes a 60-year-old man with a rare 46, XX karyotype who presented with cerebellar infarct and polycythaemia, leading to further endocrine investigations after adrenal gland enlargement was found.
13 citations
,
January 2002 in “Clinics in dermatology” This study found that AHCC supplementation significantly reduced alopecia severity in Ara-C treated rats and mitigated liver injury-related side effects in mice treated with 6-MP and MTX.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This case report identified a 6-month-old girl with congenital generalized hypertrichosis and gingival hyperplasia, where a de novo CNV on chromosome 17q24.2-24.3 was associated with reduced expression of ABCA5 and SOX9.
13 citations
,
February 2012 in “International Journal of Dermatology” This case report identifies a novel nonsense mutation in the CDH3 gene associated with hypotrichosis and juvenile macular dystrophy.
157 citations
,
May 2021 in “Endocrine Reviews” This review discusses recent advancements in understanding and managing congenital adrenal hyperplasia, including improvements in screening, diagnostics, and potential genetic and cell-based treatments, but reports no new clinical findings.
1 citations
,
January 2009 in “Gynecological endocrinology” This article discusses hirsutism, a condition causing excessive hair growth in women, and offers no new clinical results.
2 citations
,
December 2013 in “Journal of dermatology” This letter reports a homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient.
3 citations
,
September 2024 in “Journal of Microbiology and Biotechnology” This study found that human placenta hydrolysate effectively inhibited atopic dermatitis development in stimulated human cells and a mouse model, suggesting its potential as a therapeutic agent for related skin diseases.
1 citations
,
February 2025 in “International Journal of Molecular Sciences” This study found that supplementing Liaoning cashmere goats with HMBi increased cashmere length while decreasing its diameter, attributed to changes in Met-related metabolites and elevated expression of genes related to the Met cycle and cell differentiation pathways such as Wnt and MAPK.
May 2024 in “Asian Journal of Medicine and Health” This study explored the relationship between BMI percentiles and clinical severity in pediatric patients with different hemoglobin genotypes, finding significant BMI differences and associations with pain frequency, particularly noting that patients with HbSS experienced more pain than those with HbSC.
1 citations
,
June 2022 in “Experimental dermatology” This study found that SHJH hr mice, with a Hairless gene mutation, exhibit accelerated skin aging potentially due to poor antioxidative protection, highlighting the Hr gene's role in skin aging.
This article suggests that alopecia areata may be an early skin manifestation of hereditary hemochromatosis in individuals predisposed to autoimmunity, recommending iron status evaluation during AA diagnosis; it reports no new clinical results.
2 citations
,
September 2004 in “Fertility and sterility” This review discusses the cosmetic and health implications of hirsutism and highlights its potential link to serious underlying disorders, but it presents no new clinical findings.