The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

Affected individuals may also present with variable clinical symptoms such as, ataxia, deafness, diabetes, ocular and skin abnormalities. [cags.org.ae]

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]

We report the first Tunisian family with two affected sisters presenting with a phenotype suggestive of WSS. [e-sciencecentral.org]

Case presentation A 57-year-old male of Chinese background presented with bilateral gynaecomastia that was associated with a lack of energy, decreased libido and reduced shaving frequency. [edmcasereports.com]

• Disability

  […] agonadism 33 hallmark (90%) HP:0008633 25 kyphosis 60 33 frequent (33%) Frequent (79-30%) HP:0002808 26 skeletal dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0002652 27 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252 28 intellectual disability [malacards.org]

  Once a private hits the age of 25-30 the decrease begins once more and includes: learned skills become lost that lead to severe learning disabilities,motor skills deteriorate individuals dwindle mobile and additional dependent, (Children ar physically [humandiseaseinsight.com]

  […] syndrome Arachnodactyly - intellectual disability - dysmorphism Aminolevulinate dehydratase deficiency porphyria Ankyloblepharon filiforme imperforate anus Spastic paraplegia 7 Spastic paraplegia 26 Trichodental syndrome Spastic paraplegia 5A Wagner [checkrare.com]

  Source MeSH African Continental Ancestry Group Alopecia Child, Preschool Female Humans Hypogonadism Infant, Newborn Intellectual Disability Male Microcephaly Pregnancy Syndrome Pub Type(s) Case Reports Journal Article Review Language eng PubMed ID 8533801 [unboundmedicine.com]

  The teacher noted learning disabilities and memory problems suggestive of mental retardation. [e-sciencecentral.org]

• Male Hypogonadism

  We considered male hypogonadism as a stretched penis of less than4cminprepubertalboysandoflessthan9cminadults.Amenorrhea was defined as the absence of menarche in girls older than 15 years or cessation of menstruation for at least 6 months. [doctiktak.com]

  Measurement of the serum testosterone concentration is usually the most important single diagnostic test for male hypogonadism because a low value usually indicates hypogonadism. [aetna.com]

  Letrozole once a week normalizes serum testosterone in obesity-related male hypogonadism. Eur. J. [docplayer.net]

• Hearing Impairment

  impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365 33 triphalangeal thumb 60 33 occasional (7.5%) Occasional (29-5%) HP:0001199 34 thenar muscle atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003393 35 decreased palmar creases 60 [malacards.org]

  impairment, distinct facial appearance, and skeletal anomalies Possible new autosomal recessive syndrome of partial agenesis of the corpus callosum, pontine hypoplasia, focal white matter changes, hypotonia, mental retardation, and minor anomalies View [documentslide.com]

  Mild-to-profound bilateral sensorineural, predominantly high-frequency, hearing impairment evolved throughout childhood (89%; age range, 2-21 years; mean age at onset, 5 years). [doctiktak.com]

  impairment Hearing loss Heart aneurysm Heart block progressive, familial Heart block Heart defect round face congenital retarded development Heart defect tongue hamartoma polysyndactyly Heart defects limb shortening Heart hand syndrome Spanish type Heart [thefullwiki.org]

  Impairment Noonan Syndrome Noonan Syndrome 3 Noonan Syndrome, LEOPARD Syndrome Normal Tension Glaucoma Norrie Disease Nucleoside Phosphorylase Deficiency Obesity, Hyperphagia, and Developmental Delay Obesity, Severe Obesity, Morbid, with Hypogonadism [sequencing.com]

• Osteopenia

  1 hypergonadotropic hypogonadism 60 33 obligate (100%) Obligate (100%) HP:0000815 2 primary gonadal insufficiency 60 33 obligate (100%) Obligate (100%) HP:0008193 3 alopecia of scalp 60 33 obligate (100%) Obligate (100%) HP:0002293 4 osteopenia 60 33 [malacards.org]

  […] and skin anomalies (MOMES Syndrome): A newly recognized autosomal recessive syndrome New autosomal recessive syndrome of severe microcephaly and skeletal anomalies including posterior rib-gap defects New autosomal recessive syndrome of sparse hair, osteopenia [documentslide.com]

  Congenital aromatase deficiency is a very rare genetic disease characterized by androgen impregnation, pseudo-hermaphroditism and osteopenia in women, and high stature in both sexes, due to delayed ossification of growth cartilage. [docplayer.net]

  […] dwarf lethal Colavita Kozlowski type Primary pigmented nodular adrenocortical disease DPM2-CDG Ablepharon macrostomia syndrome Ulna hypoplasia with mental retardation Chromosome 19q13.11 deletion syndrome Spinocerebellar ataxia autosomal recessive 8 Osteopenia [checkrare.com]

• 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]

• Muscular Atrophy

  Atrophy, Distal, Childhood-onset Spinal Muscular Atrophy, Type I Spondyloepiphyseal Dysplasia Tarda Spondyloepiphyseal Dysplasia Tarda and Arthropathy Spondyloepiphyseal Dysplasia, Omani Type Spongiform Encephalopathy with Neuropsychiatric Features Stargardt [sequencing.com]

  atrophy 1 Facial onset sensory and motor neuronopathy Brachydactyly type B Infantile convulsions and paroxysmal choreoathetosis, familial Maturity-onset diabetes of the young Chylous ascites Familial breast cancer Multiple familial trichoepithelioma [checkrare.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]

• 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]

  1 hypergonadotropic hypogonadism 60 33 obligate (100%) Obligate (100%) HP:0000815 2 primary gonadal insufficiency 60 33 obligate (100%) Obligate (100%) HP:0008193 3 alopecia of scalp 60 33 obligate (100%) Obligate (100%) HP:0002293 4 osteopenia 60 33 [malacards.org]

  Abstract We report on an African-American patient with alopecia universalis, microcephaly, hypogonadism, and mental and growth retardation, and compare his phenotype to others with recessive alopecia/mental retardation syndromes in the literature. [unboundmedicine.com]

  They had alopecia totalis, with sparse scalp hair and absent eye lashes. [jpma.org.pk]

  Alopecia: syndromes of genetic significance. J Invest Dermatol 1973:60:475–492. PubMed CrossRef Google Scholar 4. Sâlamon T. Hypotrichosis and alopecia in cases of genodermatosis. In: Orfanos CE, Montagna W, Stüttgen G, eds. [link.springer.com]

• 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]

  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 in the temporal [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]

• Sparse Eyebrows

  eyebrow 60 Frequent (79-30%) 43 absent gonadal tissue 60 Very frequent (99-80%) [malacards.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]

  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]

  She had fine sparse hair on scalp with absent eye brows but had normal eye lashes. Her pubic and axillary hair were downy and glandular tissues of the breasts were not developed. [jpma.org.pk]

  hair RHYNS syndrome Diabetes insipidus nephrogenic mental retardation and intracerebral calcification Propionic acidemia PAGOD syndrome Cone-rod dystrophy 3 Stickler syndrome Ostium secundum atrial septal defect Autosomal dominant cerebellar ataxia, [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]

• Suggestibility

  The clinical features observed in this study were comparable to those reported by Al-Awadi et al. (1985) and suggested the occurrence of a founder mutation for hypogonadism with alopecia in the Middle-Eastern population. [cags.org.ae]

  SELECTED GENES FOR YOUR SLICE SUGGESTED CUSTOM SLICES Customize below OR enter Suggested Slice ID on printed requisition form (e.g. 706 XomeDx Slice - Slice ID: CS-Albinism). [genedx.com]

  The teacher noted learning disabilities and memory problems suggestive of mental retardation. [e-sciencecentral.org]

  The overall prevalence of consanguineous cases suggested an autosomal recessive inheritance. Defects in LMNA are the cause of heart-hand syndrome Slovenian type (HHS-Slovenian) [MIM: 610140 ]. [genscript.com]

  The clinical data suggested a laminopathy. Targeted next-generation sequencing was used to search for mutations in genes, associated with cardiomyopathy, including LMNA. [medcraveonline.com]

• 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]

• Ataxia

  Affected individuals may also present with variable clinical symptoms such as, ataxia, deafness, diabetes, ocular and skin abnormalities. [cags.org.ae]

  Ataxia, Episodic / Myokymia Ataxia and Retinitis Pigmentosa with Isolated Vitamin E Deficiency Ataxia, Isolated Vitamin E Deficiency Ataxia, Spinocerebellar Ataxia, Spinocerebellar, 6 Ataxia Telangiectasia Ataxia Telangiectasia without Immunodeficiency [sequencing.com]

  Primary Sidebar Congenital and Genetic Diseases Norrie disease Spinocerebellar ataxia 8 Supernumerary nipple Hereditary sensory and autonomic neuropathy type 7 Ehlers-Danlos syndrome, cardiac valvular type Welander distal myopathy, Swedish type Acromesomelic [checkrare.com]

  […] possible new syndrome Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia [documentslide.com]

  Tsuji syndrome Hamano Tsukamoto syndrome Hamartoma sebaceus of Jadassohn Han-Hay Hand and foot deformity flat facies Hand foot uterus syndrome Hand wringing Rett syndrome Hand-foot-mouth disease Hand-Schuller-Christian disease Hanhart syndrome Harding ataxia [thefullwiki.org]

• Cerebellar Ataxia

  Ataxia, Cataracts, and Diabetes Mellitus Cerebellar Ataxia, Cayman Type Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Cerebral Cavernous Malformations Cerebroarterial Amyloidosis, Icelandic-type Cerebrooculofacioskeletal Syndrome [sequencing.com]

  ataxia, deafness, and narcolepsy Achondrogenesis type 2 Tangier disease Charcot-Marie-Tooth disease type 2F Niemann-Pick disease type B Macrocephaly mesodermal hamartoma spectrum PHAVER syndrome Hunter Rudd Hoffmann syndrome D-glycericacidemia Dystonia [checkrare.com]

• Amenorrhea

  6 osteoporosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000939 7 cryptorchidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000028 8 increased circulating gonadotropin level 60 33 hallmark (90%) Very frequent (99-80%) HP:0000837 9 primary amenorrhea [malacards.org]

  Secondary amenorrhea is generally associated with anovulation. Nonpathological amenorrhea occurs during pregnancy and lactation. [healthcare.siemens.com]

  Amenorrhea — absence or cessation of menstruation. In primary amenorrhea, menstruation never occurs at puberty. In secondary amenorrhea, menstruation starts but then stops. [froedtert.com]

  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]

  The patient had primary amenorrhea without the somatic stigmata of Turner’s syndrome. The secondary sexual characters of the patient were undeveloped. [medcraveonline.com]

• 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]

• Irregular Menstruation

  menstruation, ovarian cysts Renal failure Hypogonadism, normal secondary characteristics Hepatic and renal failure BP Renal failure Amenorrhea, hirsutism Septicemia Renal failure Cause of Death ARDS ARDS Abbreviations: ARDS, acute (adult) respiratory [doctiktak.com]

• Hot Flushes

  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]

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]

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]

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]

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]

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]

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]

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]

Fertil Steril 69,286292.Buchanan TA, Xiang AH, Peters RK, Kjos SL, Marroquin A, Goico J, OchoaC, Tan S, Berkowitz K and Hodis HN (2002) Preservation of pancreaticb-cell function and prevention of type 2 diabetes by pharmacologicaltreatment of insulin [docslide.us]