We present a case of Sporadic Perrault syndrome in a 35-year-old female with primary amenorrhea, sensorineural deafness, marfanoid features, and normal karyotype. [ijem.in]

MD † ; Timmermann, Lars, MD ‡ ; Bachmann, Juliane, MD * ; Schmidt, Matthias C., MD * doi: 10.1097/rlu.0b013e31818c4e25 Interesting Images Abstract Author Information Authors Article Metrics Metrics A 21-year-old woman with a Perrault Syndrome (PS) presented [journals.lww.com]

Clinical Characteristics Ocular Features: Nystagmus and limited extraocular movements are usually present in PRLTS1. Optic atrophy and poor visual acuity have been reported. Ptosis may be present. [disorders.eyes.arizona.edu]

Men homozygous for an inactivating mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility. Nat. Genet. ‎ Seite 7 - from its very inception it reveals the creating hand of God." [books.google.de]

METABOLIC BONE DISEASE IJEM_182_17 Parathyroid Carcinoma: Atypical presentation, diagnosed on Ultrasound: A Case Report ALKA SINGHAL IJEM_270_17 Better preoperative localization of hyperfunctioning parathyroid glands in primary hyperparathyroidism with [esicon2017.com]

• Regurgitation

  Echocardiogram ECHO/Doppler revealed prolapse of anterior mitral leaflet, mitral regurgitation, and normal left ventricular systolic function. The patient was further evaluated for possible causes of primary amenorrhea [Table 1]. [ijem.in]

• High Arched Palate

  arched palate, epicanthal folds, lymphedema of hands and feet, aortic coarctation, renal malformation, osteoporosis, DM, widely spaced nipples, sexual infantilism. [medical-dictionary.thefreedictionary.com]

  Nishi et al,3 in their description of 21 patients, noted that two patients had high arched palate. Both our siblings had abnormal body proportions with high arched palate and long fingers with positive wrist and thumb sign. [kundoc.com]

  But our patient didn’t have features other than high arched palate and increased arm span when compared to height. The spectrum of the disease remains incomplete as there are a myriad of features added every day. [docksci.com]

  On examination, she had dolicocephaly, arachnodactyly, high arched palate, she was tall statured (height 165 cm; [Figure 1] ), her arm span (176 cm) was more than her height, reduced upper-to-lower body segment ratio (0.83), and she had arachnodactyly [ijem.in]

  Other characteristic physical findings: Dental: A high arched palate, sometimes with dental crowding or malocclusion Nails: Hypoplastic or hyperconvex nails Nevi: Excessive numbers of nevi, when compared to other family members Webbed neck: A broad neck [genetech.co.in]

• Palpitations

  The patient had paroxysmal episodes of palpitations that lasted few minutes, resolved spontaneously not associated with exertion or other aggravating factors. [ijem.in]

• Systolic Murmur

  Cardiovascular examination revealed mid-systolic click with a late systolic murmur, other systems were essentially normal. Blood investigations showed normal hemogram. [ijem.in]

• Late Systolic Murmur

  Cardiovascular examination revealed mid-systolic click with a late systolic murmur, other systems were essentially normal. Blood investigations showed normal hemogram. [ijem.in]

• Decrease in Height

  […] reflex response Decreased reflexes [ more ] 0001265 Motor delay 0001270 Sensorimotor neuropathy Nerve damage causing decreased feeling and movement 0007141 Spastic diplegia 0001264 Percent of people who have these symptoms is not available through HPO [rarediseases.info.nih.gov]

• Sparse to No Axillary Hair

  The patient had poorly developed breasts (Tanner stage 2), sparse pubic and axillary hair (Tanner stage 2). She had normal external genitalia. Her vitals were normal. [docksci.com]

• Responsiveness Decreasing

  […] reflex response Decreased reflexes [ more ] 0001265 Motor delay 0001270 Sensorimotor neuropathy Nerve damage causing decreased feeling and movement 0007141 Spastic diplegia 0001264 Percent of people who have these symptoms is not available through HPO [rarediseases.info.nih.gov]

Individual chapters on anatomic causes of bleeding, such as uterine fibroids and endometriosis, will be included with a focus on new treatment options. [books.google.de]

Management and treatment Treatment and follow-up should be multidisciplinary including audiologists, endocrinologists and neurologists. Hearing aids or cochlear implants may be of benefit for the hearing defect. Prognosis Life expectancy is normal. [orpha.net]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Treatment Treatment Options: No effective treatment is known. [disorders.eyes.arizona.edu]

Prognosis Life expectancy is normal. Outcome with treatment is very variable, depending on the association with other features, in particular the presence of neurologic disease. [orpha.net]

Etiology Mutations in the following genes have been excluded: GJB2 (responsible for the most frequent form of isolated hearing loss), FOXL2 (involved in premature ovarian failure) and POLG, FRDA, AOA1 (implicated in ataxia or ophthalmoplegia). [orpha.net]

The analysis studied the occurrence of voice and resonance disorders in general, the occurrence in different etiological subtypes of syndromes and the association with other disorders, in particular clefting, a cognitive impairment and hearing problems [karger.com]

Because of day-to-day variability in estrogen concentrations, the progestin challenge test is often preferred to establish estrogen reserves and/or etiology of primary amenorrhea in patients with an intact uterus and some secondary sex characteristics [clinicaladvisor.com]

Philip Finny IJEM_532_17 Clinico-pathological characteristics in adrenocortical carcinoma- a single centre experience over a decade Arun Menon REPRODUCTIVE ENDOCRINOLOGY IJEM_315_17 STUDY OF THE CLINICAL PROFILE AND ETIOLOGY OF VARIOUS DISORDERS OF SEX [esicon2017.com]

[…] p. 860 Abhay Gundgurthi, Sandeep Kharb, MK Garg DOI :10.4103/2230-8210.100690 PMID :23087888 [HTML Full text] [PDF] [Mobile Full text] [EPub] [PubMed] [Sword Plugin for Repository] Beta Precocious pubarche in a young boy-unusual etiology p. 862 K. [ijem.in]

[…] disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility - Rare otorhinolaryngologic disease - Rare urogenital disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

Summary Epidemiology Prevalence is unknown but 34 patients with PS (28 females and 6 males) from 15 different families have been reported so far. [orpha.net]

[…] advocacy organizations in the field of rare diseases Rare Disease Day 2018 was a success IRDiRC released its roadmap for 2018 Addressing challenges in the diagnosis and treatment of rare genetic diseases Spotlight on the second edition of “Rare Diseases Epidemiology [irdirc.org]

While the effect of toxins on the testicular function has been a suggested as a cause of falling sperm counts over this century, there is little comparable epidemiological data in women. [endocrineonline.org]

Comprehensively updated to reflect everything you need to know regarding retinal diagnosis, treatment, development, structure, function, and pathophysiology, this monumental ophthalmology reference work equips you with expert answers to virtually any [books.google.de]

Recently, research pursuits have focused on unraveling the pathophysiology underlying isolated IFG – a prominent type of pre-diabetes – affecting roughly 25 million Americans. [ucdenver.edu]

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Peroxisomes are responsible for catabolic actions of cells, including beta oxidation of very long chain fatty acids, and anabolic [mayomedicallaboratories.com]

Pathophysiology: The menstrual cycle is an orderly progression of coordinated hormonal events in the female body that stimulates growth of a follicle to release an egg and prepare a site for implantation if fertilization should occur. [genetech.co.in]

Causes See Pathophysiology. Ovarian insufficiency can develop as a result of an ovarian disorder. In this case, the clinical situation is termed primary ovarian insufficiency. [emedicine.medscape.com]

Her overarching research interest lies in understanding the different pathways by which people develop type 2 diabetes, and developing tailored strategies for diabetes prevention. [ucdenver.edu]

This effect was prevented by the antioxidantsα-tocopherol and melatonin, suggesting the involvementof free radicals [41].In one female with this association, partial deficiencyof the mitochondrial enzyme cytochrome coxidase was demonstrated by De Michele [yumpu.com]

The degree to which this long term administration of oestrogen prevents cardiovascular disease or increases risk of breast cancer is unknown and we can only extrapolate from studies in older postmenopausal women. [endocrineonline.org]

Some analysts charged that the deficits were part of a deliberate administration strategy to prevent further increases in domestic spending sought by the Democrats. However, both Democrats and Republicans in Congress refused to cut such spending. [americancenterjapan.com]

The Y229D mutant not only inhibited CLPP-peptidase activity, but unexpectedly also prevented CLPX-docking, thereby blocking the turnover of both peptide and protein substrates. [nature.com]