research 7696 Ovarian Steroid Cell Tumor Presenting as Non-classical Adrenal Hyperplasia
Early detection of ovarian steroid cell tumors is crucial to prevent lasting symptoms.
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research Non-classic congenital adrenal hyperplasia
Non-classic congenital adrenal hyperplasia is a common disorder causing symptoms like acne and infertility, and it's managed based on symptoms, not just test results. Treatment can improve fertility and reduce miscarriage risk.
research Alopecia Areata with Renal Dysgenesis
Alopecia areata may be linked to kidney issues, but more research is needed.
research IDIOPATHIC HYPOPARATHYROIDISM; A REPORT OF 2 CASES
Idiopathic hypoparathyroidism is rare and can be managed with dihydrotachysterol.
research Untreated Congenital Adrenal Hyperplasia Presenting with Severe Androgenic Alopecia
Untreated Congenital Adrenal Hyperplasia can cause severe hair loss due to high androgen levels.
research 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
research Effects of androgen overproduction on skin target organs in children with congenital adrenal hyperplasia
research AUTOSOMAL DOMINANT INHERITANCE OF ALOPECIA CONGENITA WITH KERATOSIS PALMO-PLANTARIS
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 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
research Pituitary-dependent hyperadrenocorticism in a cat
The cat had a pituitary tumor causing hormone imbalance and related health issues.
research A Rare Case Report of Congenital Adrenal Hyperplasia: 46XX at Tertiary Care Centre, Visnagar, North Gujarat.
A 22-year-old woman with a rare genetic condition was successfully treated to develop normal female characteristics and regular menstruation.
research Diffuse hair loss in Addison disease: A reason for X-linked adrenoleukodystrophy screening
Men with Addison disease should be screened for X-linked adrenoleukodystrophy if they have hair loss.
research Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma
The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
research Unusual presentation with polymenorrhagia and markedly high 17-hydroxy progesterone levels in a lady with Non-Classic Congenital Adrenal Hyperplasia.
A woman with non-classic CAH had unusual heavy periods and high hormone levels, improved with treatment.
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.
research SAT-224 Polycystic Ovary Syndrome with Adrenal Hyperandrogenemia and Refractory Hirsutism
Glucocorticoid treatment lowered androgen levels but didn't improve hirsutism or ovulation and caused weight gain.
research A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome?
The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
research Diagnostic imaging in congenital adrenal hyperplasia – how does it help?
Imaging helps detect adrenal gland issues and monitor treatment in congenital adrenal hyperplasia, and can identify tumors affecting fertility.
research 7696 Ovarian Steroid Cell Tumor Presenting As Non-classical Adrenal Hyperplasia
Ovarian steroid cell tumors can mimic adrenal hyperplasia, and surgery can normalize hormone levels.
research Growth hormone deficiency with late-onset hypothalamic hypoadrenocorticism associated with respiratory and renal dysfunction: a case report
A woman with childhood growth hormone deficiency had multiple hormone deficiencies and developed serious lung and kidney problems later in life.
research Diabetes, ovarian tumor, hyperparathyroidism, and papillary cancer: A chance association?
The woman's rare combination of diseases suggests an unknown factor may predispose individuals to multiple endocrine diseases.
research Hepatic Adenoma in an Adolescent With Elevated Androgen Levels
A teenage girl with high androgen levels and PCOS developed a rare liver tumor, suggesting a possible link between high androgens and the tumor's growth.
research Steroid 17β-hydroxysteroid dehydrogenase deficiency in man: An inherited form of male pseudohermaphroditism
Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.
research Challenges in treatment of patients with non-classic congenital adrenal hyperplasia
Treating non-classic congenital adrenal hyperplasia is complex because the benefits of hormone treatment must be weighed against potential health risks.
research Management of the Female With Non-classical Congenital Adrenal Hyperplasia (NCCAH): A Patient-Oriented Approach
The document concludes that managing non-classical congenital adrenal hyperplasia in females requires personalized treatment, genetic counseling, and a team of specialists.
research Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status
The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor
A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
research Severe Hirsutism in Non Classic Congenital Adrenal Hyperplasia: A Case Report and Literature Review
The patient with severe hirsutism improved after being diagnosed with non-classic congenital adrenal hyperplasia and treated with corticosteroids.