Edit concept Question Editor Create issue ticket

Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome

Al Awadi-Farag-Teebi Syndrome


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]
  • 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]
  • The phenotype varies and not all features are present in every individual case.[medcraveonline.com]
Amyloidosis
  • Macular Amyloidosis McCune-Albright Syndrome Multiple Endocrine Neoplasia Type 1 Neoplasms of the Endocrine Pancreas Nodular Localized Cutaneous Amyloidosis Type 2 Multiple Endocrine Neoplasia Type I Polyglandular Autoimmune Syndrome Type II Polyglandular[judarwanto14.wordpress.com]
  • I Amyloidosis I, Hereditary Neuropathic Amyloidosis III Amyloidosis, Familial, Finnish Type Amyloidosis, Familial, Visceral Amyloidosis, Reactive Amyloid Systemic Amyloidotic Polyneuropathy, Cardiac or Denmark Type Amyloidotic Polyneuropathy, German-American[sequencing.com]
  • Hepatitis D Hepatitis non-A non-B Hepatitis non-A Hepatitis non-B Hepatitis, chronic autoimmune Hepatitis Hepatoblastoma Hepatocellular carcinoma Hepatorenal syndrome Hepatorenal tyrosinemia Her Here Hered Heredi Hereditary a-Hereditary m Hereditary amyloidosis[thefullwiki.org]
Malnutrition
  • : Malnutrition in children can result in failure to grow at the expected rate, both in terms of height and weight.[familydiagnosis.com]
  • LDL Cholesterol (Hypobetalipoproteinemia) Methylmalonic Acidemia Necrobiosis Lipoidica Neonatal Hypoglycemia Obesity Ochronosis Osteoma Cutis Polygenic Hypercholesterolemia Porphyria Cutanea Tarda Pretibial Myxedema Propionic Acidemia Protein-Energy Malnutrition[judarwanto14.wordpress.com]
Foot Deformity
  • Setton Wang syndrome Halal syndrome Hall Riggs mental retardation syndrome Hallermann Streiff syndrome Hallervorden-Spatz disease Hallux valgus Hamanishi Ueba Tsuji syndrome Hamano Tsukamoto syndrome Hamartoma sebaceus of Jadassohn Han-Hay Hand and foot[thefullwiki.org]
Round Face
  • face congenital retarded development Heart defect tongue hamartoma polysyndactyly Heart defects limb shortening Heart hand syndrome Spanish type Heart hypertrophy, hereditary Heart situs anomaly Heart tumor of the adult Heart tumor of the child Heavy[thefullwiki.org]
Neglect
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]

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]
  • Treatment may include hormone therapy. Fertility specialists can discuss options such as in vitro fertilization.[froedtert.com]
  • Treatment with replacement doses of corticosteroid resulted in improvement in blood pressure and increased energy levels.[edmcasereports.com]
  • The treatment continued till the platelet count reached to 217 x 10 9 /L.[pubs.sciepub.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]

Etiology

  • 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]

Pathophysiology

  • Its pathophysiology is not well known. In some cases, different components of the disease can be observed.[pubs.sciepub.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]
  • 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]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!