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This study found that skin organoids derived from iPSCs with an HS-associated NCSTN mutation showed defects in hair follicle stem cell differentiation and increased expression of inflammatory proteins related to hidradenitis suppurativa.

In this study, a novel VDR gene mutation was identified in a child with HVDRR, and the researchers observed that high-dose intravenous calcium therapy led to significant and sustained improvement in rickets symptoms.

This study described the clinical and genetic features of two Iranian siblings with hereditary vitamin D resistant rickets, identifying a specific VDR gene mutation contributing to their symptoms.

This review discusses genetic mutations associated with Hutchinson-Gilford progeria syndrome and reports no clinical results; the authors emphasize the importance of cardiovascular monitoring in management.

This article reviews differential diagnosis approaches for 46,XY DSD, proposing a diagnostic algorithm focused on biochemical and genetic data, without presenting new clinical results.

This case study describes a 17-year-old female with severe hirsutism diagnosed with PCOS, NC-CAH, and HAIR-AN syndrome who was successfully treated based on her specific underlying conditions.

This article suggests that testosterone therapy might be considered if other treatments fail, but emphasizes discussing potential risks and benefits with patients before prescribing.

This study found that diagnosing nonclassic congenital adrenal hyperplasia in women based solely on serum 17OHP measurements can lead to false positives, suggesting the need for urinary steroid profiles and genetic testing for confirmation.

This study suggests that 5-ADIOL-S may contribute to the synthesis of potent androgens in peripheral tissues, and 3 alpha-DIOL-S could be a marker of androgen metabolism in various female patient groups.

This case report described a 9-year-old girl initially suspected to have complete androgen insensitivity syndrome, whose laboratory tests later suggested an alternative diagnosis involving atypical steroid metabolism patterns and hormonal responses.

This study found that despite challenges, a combination of oral antibiotics, anti-androgens, oral retinoids, biologics, and surgery were important in managing hidradenitis suppurativa in patients with intellectual and developmental disabilities.

This case study reports that low-dose testosterone therapy improved libido and sexual functions in a 36-year-old fragile X carrier female with hypoactive sexual desire disorder when monitored regularly for lab parameters.

The authors concluded that increased expression of the HSD11B1 gene in adipose tissue correlates with obesity markers and predicts insulin resistance, but this association is independent of polycystic ovary syndrome when adiposity is controlled for.

In this retrospective study of eight Saudi children with hereditary vitamin D resistant rickets, researchers observed that adjunctive cinacalcet appeared safe and showed initial promise in improving serum PTH levels, though further investigation is needed to confirm its efficacy.

This study presents the first reported Spanish case of Hypotrichosis with Juvenile Macular Dystrophy, identifying a new CDH3 mutation and highlighting the importance of clinical and genetic evaluation for accurate diagnosis.

In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.

This symposium updated participants on the latest advances in understanding and managing hidradenitis suppurativa, emphasizing the need for individualized treatment plans and highlighting recent progress in therapies and epidemiology.

In this case review, researchers describe a 17-year-old transgender male experiencing clitoromegaly, hirsutism, and oligomenorrhea, investigating conditions like PCOS and non-prescription testosterone use for gender affirmation, and highlighting the importance of gender-affirming care to improve mental health outcomes.

In these two clinical trials, DS-2325a, a KLK5 inhibitor, was found to be generally safe and well tolerated in healthy volunteers, with mild and non-serious adverse events, suggesting its potential for further development as a treatment for Netherton Syndrome.

This review discusses the pathways of androgen biosynthesis and reports no new findings, highlighting the need to understand the interplay between the classic and backdoor pathways.

This case report describes the first instance of juvenile hemochromatosis type 2A associated with secondary hypothyroidism, linked to a novel mutation in the HJV gene.

This study evaluated curcumin analogues as potential inhibitors of 17β-HSD3 in rat and human models, but it does not report new clinical findings.

This study explores the expression and function of 11β-HSD1 in human hair follicles and its potential regulation of glucocorticoid effects on dermal papilla cells, but reports no definitive findings on 11β-HSD1's role.

This research identified nonclassic 21-hydroxylase deficiency as the most common genetic autosomal recessive disorder in humans, particularly among certain ethnic groups, and found that treatment effectively reverses symptoms within months.

This study created a humanized mouse model of hereditary vitamin D-resistant rickets that lacks alopecia, indicating the mutant receptor's potential to explore the syndrome's characteristics beyond vitamin D binding.

In this study, a Chinese Han family with hereditary vitamin D-resistant rickets was found to have a homozygous missense mutation in the VDR gene, and the affected individual uniquely responded well to treatment with oral calcium and low-dose calcitriol.

In this study, the researchers reported that patient impacts and symptoms of hidradenitis suppurativa, as assessed by HSIA and HSSA measures, are associated with clinical characteristics such as the number of abscesses and inflammatory nodules.

In this study, 17β-estradiol increased VEGF production in differentiated THP-1 cells, while dihydrotestosterone counteracted this effect by modulating adenylate cyclase activity.

In this report, a 16-year-old Saudi girl with Woodhouse-Sakati Syndrome exhibited unique findings, including hepatic hemangioma and low growth hormone, suggesting the importance of considering WSS in similar clinical presentations.