They include: Irregular or skipped periods (amenorrhea), which might be present for years or develop after a pregnancy or after stopping birth control pills Difficulty conceiving Hot flashes Night sweats Vaginal dryness Irritability or difficulty concentrating [mayoclinic.org]

There is a need for an evidence-based integrative medicine program to assist women with primary ovarian insufficiency. [9] Presently such a program does not exist in the community, but a community of practice has formed to address this deficiency. [9] [en.wikipedia.org]

Age at presentation, clinical manifestations, and severity vary by type (see Table ). [merckmanuals.com]

Skeletal Radiol 8:27–5 Google Scholar Libicher M, Freyschmidt J (2006) Dialysis related amyloidomas presenting as bilateral gluteal mass. [link.springer.com]

• Fever

  ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS, AND LYMPHEDEMA; OLEDAID Is also known as ;ol-eda-id Related symptoms: Edema Fever Pneumonia Immunodeficiency Recurrent infections SOURCES: MONDO UMLS SCTID MESH OMIM ORPHANET More [mendelian.co]

  704 Pemphigus vulgaris 18.0 P * 705 Pendred syndrome 7.0 P * 49 Penile agenesis 80 Cases 313936 PENS syndrome 13 Cases 1335 Pentalogy of Cantrell 0.67 BP 2847 Pericardial and diaphragmatic defect 20 Cases 65250 Perineural cyst 50.0 I * 436166 Periodic fever-infantile [azkurs.org]

  Read More FAYELYNNSMOMMA premature-and-teething 200124 well lately fayelyn has had the following: excessive drool and saliva ; causing a rash on her chin irritability not eating crying till she turns purple low grade fever, norm is 97.5-97.9, but has [inspire.com]

  […] with amyloidosis TNFRSF1A Periodic fever, autosomal dominant TNFRSF1A Periodic fever with AA amyloidosis TNFRSF1A Juvenile idiopathic arthritis TNFRSF1A Systemic lupus erythematosus TNFRSF1A Cardiomyopathy, dilated TNNC1 Cardiomyopathy, hypertrophic [springer.com]

  […] followed by regression, deafness, blindness, vomiting, hyperirritability, hypersensitivity to stimuli, increased deep-tendon reflex, and spasticity; seizures; diffuse cerebral atrophy and demyelination; elevated CSF protein; peripheral neuropathy; episodic fever [merckmanuals.com]

• Weakness

  Women with low levels of estrogen have an increased risk of developing weak and brittle bones (osteoporosis), which are more likely to break than healthy bones. Depression or anxiety. [mayoclinic.org]

  Sclerotic vertebral endplates Short long bone Gait disturbance Kyphosis Craniofacial osteosclerosis Severe short stature Kyphoscoliosis Pain Camptodactyly of finger Difficulty walking Platyspondyly Waddling gait Osteoarthritis Facial hyperostosis Muscle weakness [mendelian.co]

  […] retinitis pigmentosa, pericardial effusion, cardiomyopathy, hepatomegaly, vomiting, diarrhea, liver fibrosis, primary ovarian failure, renal cysts, nephrosis, proximal tubulopathy, kyphosis, joint contractures, ectopic fat pads, orange-peel skin, muscle weakness [merckmanuals.com]

  […] atypical LMNA Muscular dystrophy, Emery-Dreifuss, neurogenic LMNA Muscular dystrophy & peripheral neuropathy LMNA Seip syndrome LMNA Cardiomyopathy, dilated LMNA Apical left ventricular aneurysm LMNA Lipodystrophy and insulin-resistance LMNA Muscle weakness [springer.com]

• Acrocephaly

  (ACS I) (Apert-Crouzon syndrome, included) (Acrocephalosyndactyly, type II, included) (ACS II, included) (Vogt cephalodactyly, included) 13 101400 Saethre-Chotzen syndrome (SCS) (Acrocephalosyndactyly, type III; ACS3) (ACS III) (Chotzen syndrome) (Acrocephaly [becomerich.lab.u-ryukyu.ac.jp]

• Erythema

  TMC8) Epidermolysis bullosa dystrophica, AD ( COL7A1) Epidermolysis bullosa dystrophica, AR ( COL7A1) Epidermolysis bullosa of hands and feet ( ITGB4) Epidermolysis bullosa pruriginosa ( COL7A1) Epidermolysis bullosa simplex with migratory circinate erythema [en.praenatal-medizin.de]

• Spastic Quadriplegia

  quadriplegia syndrome Congenital ichthyosis-microcephalus-tetraplegia syndrome Congenital non-bullous ichthyosiform erythroderma Congenital reticular ichthyosiform erythroderma Erythrokeratodermia variabilis Exfoliative ichthyosis Generalized peeling [se-atlas.de]

  quadriplegia, vacuolated lymphocytes Most patients from Italy or southwestern US Treatment: Supportive care, consideration of bone marrow or stem cell transplantation Aspartylglucosaminuria (208400) N -Aspartylglucosaminidase AGA (4q32-q33)* Onset: 2 [merckmanuals.com]

  quadriplegia, and mental retardation; IFAP syndrome with or without Bresheck syndrome; CHIME; CHILD; Cutis laxa; Beare-Stevenson cutis gyrata syndrom NGS of 11 gene panel: ALDH18A1, CYP27A1, DKC1, ELOVL4, FGFR2, MBTPS2, NSDHL, PIGL, PORCN, PYCR1, VCX3A [pentacorelab.hu]

Treatment of mucopolysaccharidosis type I (Hurler syndrome) is enzyme replacement with α -l-iduronidase, which effectively halts progression and reverses all non-CNS complications of the disease. [merckmanuals.com]

Chemotherapy and radiation treatments for cancer can sometimes cause ovarian failure. [en.wikipedia.org]

Treatment - Osteosclerosis with ichthyosis and premature ovarian failure * Womens Health Specialists: o Obstetrics & Gynecology o Reproductive Endocrinology & Infertility o Gynecological Oncology o Maternal & Fetal Medicine o Neonatal-Perinatal Medicine [checkorphan.org]

RÖFO 133:3–4 Google Scholar Krane SM (1982) Etidronate disodium in the treatment of Paget's disease of bone. [link.springer.com]

"Here we provide experimental data demonstrating that low dose RV treatment inhibits the growth of lung cancer cells via an apoptosis-independent mechanism. [inspire.com]

Tests o Home Hepatitis Tests o Home Trichomonas Tests * Sexuality & Libido: Home Testing: o Home Hormone Tests o Home Libido Tests o Home Menopause Tests o Home Andropause Tests * Liver Health: Home Testing o Home Hepatitis Tests o Home Liver Tests Prognosis [checkorphan.org]

It also avoids the first-pass effect in the liver. [34] Epidemiology [ edit ] It has been estimated that POF affects 1% of the female population. [35] History [ edit ] Fuller Albright et al. in 1942 first reported a syndrome in young women characterized [en.wikipedia.org]

Emerging insights into the pathophysiology of osteoporosis. N Engl J Med 332:30–5 Google Scholar Manson JE, Hsia J, Johnson KC et al (2003) Estrogen plus progestin and the risk of coronary heart disease. [link.springer.com]

Your skinHolds body fluids in, preventing dehydrationKeeps harmful microbes out, preventing infectionsHelps you feel things like heat, cold, and painKeeps your body temperature evenMakes vitamin D when the sun shines on itAnything ... [codelay.com]

Prevention - Osteosclerosis with ichthyosis and premature ovarian failure Not supplied. [checkorphan.org]

Restoring estrogen levels in women with premature ovarian failure helps prevent some complications, such as osteoporosis, that occur as a result of low estrogen. [mayoclinic.org]

N Engl J Med 332:158–9 Google Scholar Gordon GS (1977) Postmenopausal osteoporosis cause, prevention and treatment. [link.springer.com]

Sphingolipids are normal lipid components of cell membranes; they accumulate in lysosomes and cause extensive neuronal, bone, and other changes when enzyme deficiencies prevent their breakdown. [merckmanuals.com]