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.
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research 46, XY Disorder of Sexual Development with Ambiguous Female External Genitalia: A Case Report
A 13-year-old with 46 XY DSD had ambiguous genitalia due to incomplete masculinization.
research Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty
In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.
research Spontaneous fertility in a male patient with testotoxicosis despite suppression of FSH levels
A man with testotoxicosis was fertile despite low FSH levels, suggesting high testosterone may allow sperm production without FSH.
research Disorders linked to insufficient androgen action in male children
Insufficient androgen action in male fetuses can cause genital development issues due to genetic mutations or environmental chemicals.
research MALE PSEUDOHERMAPHRODITISM DUE TO 17β-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY: STUDIES ON THE NATURAL HISTORY OF THE DEFECT AND EFFECT OF ANDROGENS ON GENDER ROLE
Masculinization in affected individuals occurs gradually after puberty due to hormone changes.
research Disorders of Sex Development
DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.
research A case of 21-hydroxylase deficiency in Turner′s syndrome and literature review
Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.
research DHT deficiency perturbs the integrity of the rat seminiferous epithelium by disrupting tight and adherens junctions
DHT deficiency can disrupt cell connections in rat testes, possibly affecting fertility.
research Clinical characterization of men with long QT syndrome and torsades de pointes associated with hypogonadism: A review and pharmacovigilance study
Low testosterone in men is a risk factor for a specific heart rhythm issue, and testosterone treatment may help prevent it.
research Disorders linked to insufficient androgen action in male children
Male children's genital development issues can be caused by genetic mutations or environmental factors affecting hormone action.
research Male pseudohermaphroditism due to 17β-hydroxysteroid dehydrogenase deficiency: Studies on the natural history of the defect and effect of androgens on gender role
Individuals with this condition often develop male traits and identities at puberty despite being raised as females.
research Virilism and Ectopic Expression of HSD17B5 in Mature Cystic Teratoma
A woman's mature cystic teratoma caused her virilization by producing testosterone.
research SUN-LB2 Undescended Testicle and Short Stature as Manifestation of Pituitary Stalk Interruption Syndrome a Report From Saudi Arabia
Early diagnosis of PSIS can lead to normal height with growth hormone and testosterone treatment.
research Androgen Biosynthesis and Gene Defects
Gene mutations can cause problems in male genital development.
research Review Article: Practical Aspects of Testosterone Deficiency Syndrome in Clinical Urology
Testosterone replacement therapy improves libido, mood, muscle strength, and bone density in men with Testosterone Deficiency Syndrome.
research Defects in Androgen Biosynthesis Causing 46,XY Disorders of Sexual Development
Genetic defects in androgen production are linked to male developmental disorders and are improving treatment understanding.
research 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population.
A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
research Systematic analyses of murine masculinization processes based on genital sex differentiation parameters
DHT is crucial for urethral formation, and its disruption can affect masculinization and lead to hypospadias.
research PMON281 PERSISTENT VIRILIZATION AND VASOMOTOR SYMPTOMS IN A TRANSMAN 5-YEARS POST TESTOSTERONE WITHDRAWAL
A transman experienced lasting virilization symptoms after stopping testosterone, which were resolved with estradiol treatment.
research 215. Plasma testosterone and dihydrotestosterone in cryptorchid boys treated with HCG
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 The effect of chemotherapy regimens in male germ cell tumors on the development of primary hypogonadism
Chemotherapy for male germ cell tumors often leads to hypogonadism and related symptoms.
research Proliferating Trichilemmal Tumor Presenting as a Scrotal Mass in a Middle-Aged Male: An Uncommon Location
A rare benign tumor was found in a man's scrotum, highlighting the need for accurate diagnosis.
research SAT-148 Late Diagnosis of Klinefelter Syndrome: Overcoming Phenotypic Variability and Diagnostic Oversights
Early physical exams are crucial for timely Klinefelter syndrome diagnosis.
research Challenges in diagnosing ovarian sertoli-leydig cell tumors: A Peruvian case series
Diagnosing Sertoli-Leydig cell tumors is challenging due to their unusual symptoms and can occur at any age.
research Photosensitive Trichothiodystrophy with Complex Cerebral Abnormalities
Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
research Trichothiodystrophy Associated with Urologic Malformation and Primary Hypercalduria
Trichothiodystrophy can be linked to urologic issues and high calcium in urine.
research Serum concentrations of dihydrotestosterone are associated with symptoms of hypogonadism in biochemically eugonadal men
Higher DHT levels are linked to fewer hypogonadism symptoms in men with normal testosterone levels.
research Case Report: Disorder of Sex Development 46, XY with Proximal Hypospadias in a 10-Year-Old Twin Boy: Disorder of Sex Development 46, XY with Proximal Hypospadias
A 10-year-old boy with abnormal genital development had surgery and tests to find the cause and plan treatment.