research Malabsorptive Disorders of Childhood
Early diagnosis of malabsorptive disorders in children is crucial to prevent long-term malnutrition.
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510-540 / 1000+ resultsresearch ROBERTSONIAN TRANSLOCATION PATIENT WITH RECURRENT MISCARRIAGE
Robertsonian translocation can cause recurrent miscarriages.
research Kallmann's syndrome: skeletal and psychological aspects of late diagnosis.
Hormonal therapy is essential in late-diagnosed Kallmann's syndrome to prevent bone issues.
research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
research Mild Cutaneous Manifestation in Two Young Women with Extraordinary Hyperandrogenemia
Two women with very high androgen levels had only slight skin issues, one due to a non-classical adrenal disorder and the other due to an adrenal tumor.
research A clinical case of CNOT3 syndrome in a 10-year-old girl
Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
research Quisto matrical. Diagnósticos diferenciais.
The skin lesion was diagnosed as a matrical cyst with unusual features.
research MULTIPLE DEFECTS OF THE HAIR SHAFT IN NETHERTON'S DISEASE.
Netherton's disease causes multiple hair defects.
research Female Gonadal Function before and after Treatment of Acromegaly
Treatment of acromegaly can improve women's reproductive health issues caused by hormonal imbalances or tumors.
research Arginosuccinicaciduria
The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
research INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS
Mutations in specific genes cause different types of ectodermal dysplasias.
research Virilism and Ectopic Expression of HSD17B5 in Mature Cystic Teratoma
A woman's mature cystic teratoma caused her virilization by producing testosterone.
research Monilethrix in pattern distribution in siblings: Diagnosis by trichoscopy
Trichoscopy can diagnose monilethrix, a genetic hair defect causing hair thinning and loss.
research PA15 Becker naevus syndrome associated with a mosaic pathogenic variant in ACTB
A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
research Síndrome dos cabelos anágenos frouxos associada à distrofia macular: descrição de uma família
Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.
research Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
research Madarosis: A dermatological marker
research Digit ratio 2D:4D is a possible indicator for androgenetic alopecia in males
Finger length ratio may indicate male hair loss.
research CUTANEOUS MASTOCYTOSIS IN CHILDREN: AN INDIAN EXPERIENCE
Fox Fordyce disease can occur in prepubertal girls and may be underdiagnosed.
research Value of dermoscopy for the diagnosis of monilethrix
Dermoscopy helped diagnose a rare hair disorder in a 2-year-old boy.
research Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
research 212 DISTURBANCES OF REPRODUCTIVE FUNCTION IN WOMEN WITH PITUITARY ADENOMA
Women with pituitary adenomas often have reproductive issues, like irregular periods and trouble getting pregnant, but not always breast milk production without pregnancy.
research A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus
A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
research The Appearance of Four Basement Membrane Zone Antigens in Developing Human Fetal Skin
research Monilethrix
A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
research Plasma levels of C19 steroid glucuronides in pre-menopausal women with non-classical congenital adrenal hyperplasia
Women with non-classical congenital adrenal hyperplasia have higher levels of certain steroids, which can be reduced by treatment.
research Secondary amenorrhea
Secondary amenorrhea has many causes and requires thorough evaluation to treat and restore menstrual cycles.
research Dermatologic care of patients with differences of sex development
Dermatologists are crucial in providing personalized care for patients with sex development differences.
research GRANULOSA‐THECA CELL TUMOR IN A ONE‐YEAR‐OLD INFANT
A rare ovarian tumor caused early puberty signs in a 1-year-old girl, but surgery reduced hormone levels.
research Maternal androgen excess induces cardiac hypertrophy and left ventricular dysfunction in female mice offspring
High levels of male hormones in pregnant mice cause heart enlargement and poor heart function in their female babies.