research 46,XY DSD due to impaired androgen production
Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
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research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research PMON319 A Pure Androgen Secreting Adrenal - Cortical Tumor in a 13 Year Old Female
A 13-year-old girl's masculine symptoms improved after surgery for a rare adrenal tumor that produced male hormones.
research Reduced metabolites mediate neuroprotective effects of progesterone in the adult rat hippocampus. The synthetic progestin medroxyprogesterone acetate (Provera) is not neuroprotective
Progesterone protects brain cells, but Provera does not.
research 5alpha-reductase 2 inhibition impairs brain defeminization of male rats: Reproductive aspects
5alpha-reductase 2 is crucial for proper male brain development and sexual differentiation.
research The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
A new gene variant causes glucocorticoid resistance in a mother and son.
research Generalised Glucocorticoid Resistance
Mutations in the glucocorticoid receptor gene cause reduced sensitivity to glucocorticoids and may lead to poor response to treatment.
research Becker's nevus associated with chromosomal mosaicism and congenital adrenal hyperplasia
High androgen levels and genetic factors likely cause Becker's nevus and related symptoms.
research Alopecia areata – hyperactivity of the hypothalamic–pituitary–adrenal axis is a myth?
The study found no significant difference in stress hormone levels between people with alopecia areata and healthy individuals, suggesting that the disease is not caused by an overactive stress response system.
research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Certain genetic changes in the LSS gene cause a rare skin and hair condition.
research Localization, Age- and Site-Dependent Expression, and Regulation of 11β-Hydroxysteroid Dehydrogenase Type 1 in Skin
Increased 11β-HSD1 activity in skin may contribute to aging and could be targeted to reduce aging effects.
research Steroid sulfatase inhibitors
Steroid sulfatase inhibitors could help treat hormone-related disorders and cancers.
research DHEA and TNF-α: Key Factors in Managing Polycystic Ovary Syndrome in Iraqi Females
Higher levels of DHEA and TNF-α are linked to PCOS symptoms.
research Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families
Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.
research An X-traordinary stroke
Untreated congenital adrenal hyperplasia can lead to complications like stroke and needs glucocorticoid treatment.
research New Insights into Testosterone Biosynthesis: Novel Observations from HSD17B3 Deficient Mice
Mice without the enzyme HSD17B3 still produce normal testosterone, suggesting they have different ways to make it compared to humans.
research Isotretinoin-unresponsive acne as a sign of a congenital disorder: a case of 21-hydroxylase deficiency
Acne not improved by usual treatments may indicate a genetic disorder.
research The significance of CYP11A1 expression in skin physiology and pathology
CYP11A1 is crucial for skin health and disease by producing important steroids.
research Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
Early detection and biotin treatment improve outcomes for biotinidase deficiency.
research Vitamin D Dependent Rickets Type II with Alopecia
A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.
research Sexual Function and Depressive Symptoms in Young Women With Nonclassic Congenital Adrenal Hyperplasia
Young women with nonclassic congenital adrenal hyperplasia may experience worse sexual function and mild depression compared to healthy women.
research Ovarian intratumoral 21-hydroxylase deficiency in a postmenopausal hirsute woman
A postmenopausal woman's masculine symptoms improved after surgery for a hormone-producing ovarian tumor.
research 5α Reductase Deficiency—a Rare Cause of Ambiguous Genitalia and Gender Dysphoria
5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.
research Dermatopathia Pigmentosa Reticularis with Salzmann’s nodular degeneration of cornea: A rare association
An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
research [A case of generalized komuragaeri disease (Satoyoshi disease) treated with glucocorticoid].
Glucocorticoid treatment improved symptoms in a girl with Satoyoshi disease.
research Netherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments.
Early genetic testing and new therapies like secukinumab are crucial for managing Netherton syndrome effectively.
research Infiltrative Erythemas and Nodules on a Unilateral Cheek Following Inappropriate Use of a Topical Steroid
A woman got a skin condition from misusing a steroid cream, which improved after she stopped using it and started a new treatment.
research Suspected Calcinosis Cutis and Demodicosis, Secondary to an Exogenous Steroid Administration in a Dog with Hypoadrenocorticism
A dog developed skin issues from too many steroids, but reducing steroids and using a specific treatment fixed the problems.
research Clinical case of a patient with progressive supranuclear palsy – from symptom to diagnosis
Accurate diagnosis of progressive supranuclear palsy requires thorough neurological assessments and MRI.
research The diagnosis of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, based on serum basal or post-ACTH stimulation 17-hydroxyprogesterone, can lead to false-positive diagnosis
Using 17-hydroxyprogesterone levels to diagnose nonclassic congenital adrenal hyperplasia can result in many incorrect diagnoses.