Presentation
The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]
The clinical findings of the family presented in this study are very similar to the two cases reported by Al-Awadi and Mégarbané (Table), and it may be suggested that this is the report of a 3rd family with a similar clinical presentation. [jpma.org.pk]
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We report the first Tunisian family with two affected sisters presenting with a phenotype suggestive of WSS. [e-sciencecentral.org]
Affected individuals may also present with variable clinical symptoms such as, ataxia, deafness, diabetes, ocular and skin abnormalities. [cags.org.ae]
Musculoskeletal
- Lordosis
An exaggerated dorsal kyphosis, lumbar lordosis, and malformed 5th lumbar vertebra were observed in one sister. Their parents were also first cousins. [jpma.org.pk]
She has exaggerated lumbosacral lordosis and thoracic kyphosis. Her breasts are small with little gland tissue palpable. Her pubic and axillary hair is scanty. The phenotype is similar to that of RF but with milder skeletal abnormalities. [docslide.com.br]
Thoracic and lumbar scoliosis, kyphosis, or lordosis was present in 110 (68%) of 161 patients (age range, 4-42 years). Fingers tended to be short and tapered. The children had characteristic short, thick, wide, and flat feet (Figure 3). [doctiktak.com]
- Thenar Muscle Atrophy
muscle atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003393 35 decreased palmar creases 60 33 occasional (7.5%) Occasional (29-5%) HP:0006184 36 contracture of the proximal interphalangeal joint of the 5th finger 60 33 occasional (7.5%) Occasional [malacards.org]
Skin
- Partial Alopecia
Kuwait Lebanon Megarbane et al. (2003) described two sisters from a consanguineous family with primary hypogonadism, partial alopecia and other associated symptoms. [cags.org.ae]
Partial alopecia, diabetes mellitus, MR, deafness, and ECG abnormalities MR, deafness, and ECG abnormalities Congestive cardiomyopathy Partial bitemporal alopecia in three sibs with Miillerian dysgenesis in the affected females Partial alopecia more [docslide.com.br]
Primary hypergonadotropic hypogonadism, partial alopecia, and Müllerian hypoplasia: report of a second family with additional findings. Am J Med Genet A 2003; 119A: 214-7. 3.Aughton DJ. [jpma.org.pk]
Synonyms al awadi-farag-teebi syndrome|primary hypergonadotropic hypogonadism - partial alopecia Etiology Please input defination information here. Diagnosis Please input defination information here. [pediascape.org]
Two sisters presented with partial alopecia, primary hypergonadotropic hypogonadism and Mullerian hypoplasia associated with mild mental retardation, microcephaly, flat occiput, sparse eyebrows, absence of breast tissue, absent ovaries, mild-moderate [ncbi.nlm.nih.gov]
- No Pubic Hair
30%) HP:0002652 27 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252 28 intellectual disability, mild 60 33 frequent (33%) Frequent (79-30%) HP:0001256 29 lumbar hyperlordosis 60 33 frequent (33%) Frequent (79-30%) HP:0002938 30 sparse pubic [malacards.org]
[…] and absent facial, axillary and pubic hair. [jpma.org.pk]
He has no beard and almost no body hair except for axillary and pubic hair which are of normal male distribution. His voice is normal. He has a normally sized penis and small soft testes of 10-12 ml each. [docslide.com.br]
Secondary sexual characteristics were absent with no facial, axillary or pubic hair, and minimal breast budding was present with marked vulvar hypoplasia. [e-sciencecentral.org]
In his genital examination, his bilateral testicles were small, penis length was 1 cm and it was 4 cm when elongated, and axillary hair growth was very less (according to the Tanner scale, pubic hair growth was at the stage 3, testicular development was [pubs.sciepub.com]
- Sparse Eyebrows
Two sisters presented with partial alopecia, primary hypergonadotropic hypogonadism and Mullerian hypoplasia associated with mild mental retardation, microcephaly, flat occiput, sparse eyebrows, absence of breast tissue, absent ovaries, mild-moderate [ncbi.nlm.nih.gov]
60 Very frequent (99-80%) 42 sparse eyebrow 60 Frequent (79-30%) 43 absent gonadal tissue 60 Very frequent (99-80%) [malacards.org]
Her face was dysmorphic, which included a triangular shape with a large forehead, alopecia predominant in the fronto-temporal region of the scalp, sparse eyebrows and eyelashes, hypertelorism, prominent nasal root, large ears, precocious skin aging and [e-sciencecentral.org]
- Sparse Hair
hair, osteopenia, and mental retardation in Mennonite sisters New mental retardation syndrome with hearing impairment, distinct facial appearance, and skeletal anomalies Possible new autosomal recessive syndrome of partial agenesis of the corpus callosum [documentslide.com]
They had alopecia totalis, with sparse scalp hair and absent eye lashes. [jpma.org.pk]
hair syndrome Waardenburg syndrome type 3 Hepatoerythropoietic porphyria Pseudohypoparathyroidism type 1C Bjornstad syndrome Cardiomyopathy dilated with woolly hair and keratoderma Ectodermal dysplasia trichoodontoonychial type Johnson neuroectodermal [checkrare.com]
- Flushing
This included a discussion of hot flushes, bone and cardiovascular changes, menstrual irregularity, mood disturbances and depression, and anatomical changes in the ovary and breast. [books.google.com]
N46.9 Male infertility N52.9 Male erectile dysfunction, unspecified N62 Hypertrophy of breast N64.4 Mastodynia Numerous Options Fractures [low trauma] Q55.0 Absence and aplasia of testis Q55.1 Hypoplasia of testis and scrotum [very small testes] R23.2 Flushing [aetna.com]
Psychiatrical
- Mood Swings
The most common side effects of Aveed include acne, difficulty sleeping, feeling tired, increased estradiol level, increased prostate specific antigen, increased red blood cell count, irritability, low testosterone level, mood swings, and pain at the [aetna.com]
Urogenital
- Primary Amenorrhea
amenorrhea 60 33 hallmark (90%) Very frequent (99-80%) HP:0000786 10 absence of secondary sex characteristics 60 33 hallmark (90%) Very frequent (99-80%) HP:0008187 11 thin upper lip vermilion 60 33 hallmark (90%) Very frequent (99-80%) HP:0000219 12 [malacards.org]
The females presented with primary amenorrhea. Both had partial alopecia especially on the temporo-parietal regions of the cranium. Their eyebrows and eyelashes were intact. They had streak ovaries. [jpma.org.pk]
Primary amenorrhea results from damage to or absence of the uterus, while secondary amenorrhea results from hormonal dysfunction or imbalance at the hypothalamic, pituitary or ovarian level. [healthcare.siemens.com]
The patient had primary amenorrhea without the somatic stigmata of Turner’s syndrome. The secondary sexual characters of the patient were undeveloped. [medcraveonline.com]
She had a primary amenorrhea, and alopecia was noted since the age of 15 years. She demonstrated the same dysmorphic facial characteristics as her sister. [e-sciencecentral.org]
Neurologic
- Global Developmental Delay
Developmental Delay (46%) Hyperinsulinemiausuallydevelopedbetweenages18months and 4 years (92%). [doctiktak.com]
Treatment
The third part of the symposium addressed treatment options, both in terms of symptoms as well as reproductive and fertility concerns. [books.google.com]
The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]
The included trials compared either T or DHEA treatment with placebo or no treatment. [aetna.com]
Treatment Please input treatment information here. You can also add sub-section(s) at will. Labs working on this disease Please input related labs here. References Please input treatment information here. [pediascape.org]
Treatment may include hormone therapy. Fertility specialists can discuss options such as in vitro fertilization. [froedtert.com]
Prognosis
In article View Article PubMed [4] Çekdemir D, DizKüçükkaya R.Treatment and Prognosis of Immune Thrombocytopenia. Turkiye Klinikleri J Hematol-Special Topics 2014; 7 (2):72-9. In article [5] Koshy G, Danda S, Thomas N, Mathews V, Viswanathan V. [pubs.sciepub.com]
DCM patients with LMNA mutations have poor prognosis due to life-threatening ventricular tachyarrhythmias, progressive heart failure and high risk of sudden cardiac death. [medcraveonline.com]
These patients have a poor clinical prognosis; 11 of 33 have died (age range, 14-48 years). 80 First Episode Recurrence Hepatic and GI Urologic and Renal General urologic disturbances and abnormal voiding patterns were reported in 57 females and 20 males [doctiktak.com]
Aplastic anemia (second of two parts): Pathogenesis, diagnosis, treatment, and prognosis. N Engl J Med. 1982;306(12):712-718. Bin-Abbas B, Conte FA, Grumbach MM, et al. [aetna.com]
Etiology
Synonyms al awadi-farag-teebi syndrome|primary hypergonadotropic hypogonadism - partial alopecia Etiology Please input defination information here. Diagnosis Please input defination information here. [pediascape.org]
Anamnesis was asked to his relatives and there was no medical history which can explain the etiology of thrombocytopenia. [pubs.sciepub.com]
The cases presented may be a part of the syndrome, or an allelic entity, the etiology of which is currently unknown. [jpma.org.pk]
Autosomal recessive hypogonadism is a well recognized, clinically and etiolog- ically heterogeneous group of disorders [McKusick, 19831. They can be eugonado- tropic, hypergonadotropic, or hypogonadotropic. [docslide.com.br]
The molecular etiology remains unknown in other indicated cases. 1, 2, 7, 8 Detection of such clinical cases indicates other genetic involvement in the pathogenesis of the Malouf syndrome. [medcraveonline.com]
Epidemiology
"Blood Pressure" [SH] (epidemiology AND humans) [SH] SI Secondary Source ID The SI field identifies secondary source databanks and accession numbers, e.g., GenBank, GEO, PubChem, ClinicalTrials.gov, ISRCTN. [biomedsearch.com]
Limited epidemiological datahave shown no increase in cardiovascular events, but twofactors need to be borne in mind: The young age of the cohortsstudied so far (~55 years) and the possibility that unknownfactors(s) may be present in PCOS which protect [docslide.us]
Pathophysiology
Its pathophysiology is not well known. In some cases, different components of the disease can be observed. [pubs.sciepub.com]
The Alström syndrome: report of three cases with further delineation of the clinical, pathophysiological, and genetic aspects of the disorder. Medicine (Baltimore). 1973;52:53-71. Correction Error in Figure. [doctiktak.com]
Prevention
And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]
[…] early virilisation and an aromatase inhibitor to prevent the rapid ossification of growth cartilage) [24, 37]. [docplayer.net]
Froedtert & the Medical College of Wisconsin endocrinologists counsel women regarding screening, prevention and treatment. A common test for osteoporosis is a bone density scan called DXA (dual energy X-ray absorptiometry). [froedtert.com]
CDC [CN] Centers for Disease Control and Prevention" [CN] DP Publication Date The date that the article was published. 2007/1/31[DP] 2001/3:2001/10[DP] 2009[DP] DTRE Date Revised The date a change was last made to a record as a result of NLM's individual [biomedsearch.com]
In cardiologist’s routine practice, a genetic diagnosis of LMNA mutation associated with DCM is a key aspect to assess the optimal treatment strategy and a timely preventive cardioverter-defibrillator implantation. [medcraveonline.com]