research Adult Onset Isolated Hypogonadotropic Hypogonadism- a Cause of Secondary Amenorrhea
A 23-year-old woman's missed periods were caused by a rare genetic disorder treated with hormone patches.
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570-600 / 1000+ results research LACK OF EFFECT OF OESTROGENS ON ADRENAL ANDROGEN SECRETION IN CHILDREN AND ADOLESCENTS WITH A COMMENT ON OESTROGENS AND PUBIC HAIR GROWTH
Oestrogen does not affect adrenal androgen levels in children and adolescents.
research Prematüre Pubarş Olgularının Değerlendirilmesi: Tek Merkez Deneyimi
Careful diagnosis is crucial in premature pubarche cases, as 20% have other conditions.
research Diagnosed with primary adrenal insufficiency? search adrenoleukodystrophy-two brothers presented with similar phenotype
Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
research Delayed Puberty
Delayed puberty often runs in families, can affect growth, and may need hormone treatment.
research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research CONGENITAL ATRICHIA.*
Congenital atrichia is a rare condition where children are born without hair, and treatment is often ineffective.
research Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
research Virilizing Adrenocortical Oncocytoma in a Child: A Case Report
A rare adrenal tumor in a 14-year-old girl caused male-like symptoms and was successfully removed.
research Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes
Excessive body hair can signal complex health issues.
research ODP408 Elevated DHEAS and Acute Hair Loss in an Adult Male with Trichorhinophalangeal Syndrome Type 1: a Case of Male PCOS
A 21-year-old male with a rare genetic disorder experienced sudden hair loss and high DHEAS levels, likely due to a condition similar to PCOS, usually seen in women.
research 7745 Hirsutism in young girls, Beyond PCOS
Hirsutism in young girls can have causes other than PCOS, so diagnoses should be reassessed if treatments don't work.
research An endocrinopathy characterized by dysfunction of the pituitary-adrenal axis and alopecia universalis: supporting the entity of a triple H syndrome
Triple H syndrome exists and can vary in symptoms.
research Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
Mutations in the hairless gene cause a rare form of permanent hair loss.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research Persistent Hypoglycemia and Macrosomia in a Newborn
A newborn with severe low blood sugar due to a genetic issue needed major surgery after standard treatments failed.
research 7745 Hirsutism in young girls: Beyond PCOS
Hirsutism in young girls can have various causes beyond PCOS, so diagnoses should be reconsidered if treatments don't work.
research Cutaneous Mastocytosis Associated With Congenital Alopecia
A 3-year-old girl with skin mast cell buildup and congenital baldness improved with treatment, suggesting a rare link between these conditions.
research Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia
Two cases showed skin abnormalities without bone or neural defects.
research SUN-439 Hypothalamic-Pituitary-Adrenal Axis Disruption from Unregulated Glucocorticoid Use: A Case Series
Unregulated glucocorticoid use can disrupt hormone balance and cause serious health issues.
research Case Report: ACTH- and CRH-secreting pheochromocytoma as a very rare cause of ectopic Cushing syndrome
A rare tumor caused unusual hormone production leading to Cushing syndrome.
research Congenital hair loss disorders: Rare, but not too rare
Some hair loss disorders are caused by genetic mutations affecting hair growth.
research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
research A Case of Familial Male-limited Precocious Puberty with a Novel Mutation
A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
research Cases Report the Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
research Aplasia cutis congenita on lumbosacral area
A newborn girl has a rare skin condition with two ulcers on her buttock that are healing on their own.
research 9243 Postmenopausal Hyperandrogenism due to Rare Ovarian Tumor
Bilateral salpingo-oophorectomy resolved hyperandrogenism in a postmenopausal woman with rare ovarian tumors.
research Hyperandrogenism Due to a Testosterone-Secreting Sertoli-Leydig Cell Tumor Associated With a Dehydroepiandrosterone Sulfate-Secreting Adrenal Adenoma in a Postmenopausal Woman: Case Presentation and Review of Literature
research Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1
A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
research Testosterone- and Cortisol-Secreting Adrenocortical Oncocytoma: An Unusual Cause of Hirsutism
A woman's excessive hair growth was caused by a rare benign tumor in her adrenal gland, which was successfully removed.