A rare enzymatic defect, true isolated 17,20-lyase deficiency leading to endocrine disorders and infertility: case report

2019 ◽  
Vol 36 (4) ◽  
pp. 297-302
Author(s):  
Jamileh Afsar ◽  
Ali Kachuei ◽  
Mahin Hashemipour ◽  
Amir Larki-Harchegani ◽  
Somayeh Shabib
2015 ◽  
Vol 1 (3) ◽  
pp. e199-e203 ◽  
Author(s):  
Yan Bing ◽  
Guo Jing ◽  
Wang Chang-You ◽  
Wang Xue-Ming ◽  
Lu Chun-Xiu ◽  
...  

2020 ◽  
Vol 40 (2) ◽  
pp. 134-137
Author(s):  
Subhana Thapa Karki ◽  
Vandana Jain

McCune Albright syndrome (MAS) is a very rare genetic disease characterised by any two of the following three findings: café au lait spots, polyosteotic fibrous dysplasia and endocrine disorders. The clinical presentation of MAS may vary depending on which of the various components of the syndrome predominate. Here, we report one case of MAS presenting with precocious puberty.


2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Jamshid Vafaeimanesh ◽  
Mohammad Bagherzadeh ◽  
Mahmoud Parham

Introduction. Many diseases and conditions can contribute to elevated liver enzymes. Common causes include viral and autoimmune hepatitis, fatty liver, and bile duct diseases, but, in uncommon cases like liver involvement in endocrine disorders, liver failure is also seen. Adrenal insufficiency is the rarest endocrine disorder complicating the liver. In the previously reported cases of adrenal insufficiency, mild liver enzymes elevation was seen but we report a case with severe elevated liver enzymes and liver failure due to adrenal insufficiency. Based on our knowledge, this is the first report in this field.Case Report. A 39-year-old woman was referred to emergency ward due to drowsiness and severe fatigue. Her laboratory tests revealed prothrombin time: 21 sec, alanine aminotransferase (ALT): 2339 IU/L, aspartate aminotransferase (AST): 2002 IU/L, and ALP: 90 IU/L. No common cause of liver involvement was discovered, and eventually, with diagnosis of adrenal insufficiency and corticosteroid therapy, liver enzymes and function became normal. Finally, the patient was discharged with good general condition.Conclusion. With this report, we emphasize adrenal insufficiency (primary or secondary) as a reason of liver involvement in unexplainable cases and recommend that any increase in the liver enzymes, even liver failure, in these patients should be observed.


2017 ◽  
Vol 2017 ◽  
pp. 1-6 ◽  
Author(s):  
S. S. C. Gunatilake ◽  
U. Bulugahapitiya

Background. Primary hyperaldosteronism is a known cause for secondary hypertension. In addition to its effect on blood pressure, aldosterone exhibits proinflammatory actions and plays a role in immunomodulation/development of autoimmunity. Recent researches also suggest significant thyroid dysfunction among patients with hyperaldosteronism, but exact causal relationship is not established. Autoimmune hyperthyroidism (Graves’ disease) and primary hyperaldosteronism rarely coexist but underlying mechanisms associating the two are still unclear.Case Presentation. A 32-year-old Sri Lankan female was evaluated for new onset hypertension in association with hypokalemia. She also had features of hyperthyroidism together with high TSH receptor antibodies suggestive of Graves’ disease. On evaluation of persistent hypokalemia and hypertension, primary hyperaldosteronism due to right-sided adrenal adenoma was diagnosed. She was rendered euthyroid with antithyroid drugs followed by right-sided adrenalectomy. Antithyroid drugs were continued up to 12 months, after which the patient entered remission of Graves’ disease.Conclusion. Autoimmune hyperthyroidism and primary hyperaldosteronism rarely coexist and this case report adds to the limited number of cases documented in the literature. Underlying mechanism associating the two is still unclear but possibilities of autoimmune mechanisms and autoantibodies warrant further evaluation and research.


2002 ◽  
Vol 49 (4) ◽  
pp. 523-529 ◽  
Author(s):  
MITSUHIRO GOTOH ◽  
JUNKO NAKANO ◽  
SANAE MIDORIKAWA ◽  
SUSUMU NIIMURA ◽  
YOSHIAKI ONO ◽  
...  

Andrologia ◽  
2009 ◽  
Vol 6 (1) ◽  
pp. 59-66 ◽  
Author(s):  
Emil STEINBERGER ◽  
Miguel FICHER ◽  
Keith D. SMITH

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Branavan Ragunanthan ◽  
James K Salem

Abstract Introduction: Multitudinous endocrine and non-endocrine disorders cause thyroid nodules, thus in an effort to diagnostically exclude various thyroid malignancies, endocrinologists are obligated to perform a thorough investigative workup. A Killian-Jamieson diverticulum (KJD) is a rare form of cervical esophageal diverticulum that results from anterolateral, mucosal protrusion below the cricopharyngeal muscle. Due to the vicinity of the thyroid gland, this lesion can mistakenly present as a thyroid nodule. Case Description:A 71-year-old female with a past medical history of invasive ductal carcinoma clinical stage 1A, T1a/bN0M0 grade 1 ER+PR+HER2- with treatment composed of radioactive seed localized partial mastectomy and sentinel lymph node biopsy, whole breast radiotherapy, and anastrozole therapy was referred to an endocrinology clinic for evaluation of a left 1.0 cm thyroid nodule incidentally discovered on a CT without contrast scan conducted for bronchitis. Immediate pre-office TSH level collected was normal at 3.28 mIU/L and thyroid ultrasound (US) demonstrated a left lower lobe 2.0 cm AP x 1.7 cm transverse x 2.1cm cephalocaudad heterogenous, solid, well-circumscribed, microcalcified, TI-RADS 4 nodule. In the endocrinology office, the patient’s only symptoms were hoarseness, an improving cough, and neck stiffness. The blood pressure collected was 128/74. Office physical exam demonstrated thyromegaly without nodules. The patient met criteria for a fine-needle aspiration (FNA). A first FNA performed was an uncomplicated biopsy of the lesion, but demonstrated insufficient cellularity on pathology. A second FNA performed was also an uncomplicated biopsy of the lesion, and demonstrated squamous cells, debris material suggestive of vegetable material, and rare benign follicular epithelial cells. Fluoroscopic esophagram was performed subsequently demonstrating a moderate left-sided KJD. Discussion: While literature exists documenting the etiology, pathogenesis, and medical/surgical treatments for KJDs, only a few case reports exist reporting the resemblance KJDs have with thyroid nodules. This case report hopes to illustrate non-endocrinology pathologies that can mimic thyroid nodules while encouraging current healthcare practitioners to recognize the existence of these conditions so that wasteful diagnostic tests or invasive procedures can be avoided.


2021 ◽  
Vol 2021 ◽  
pp. 1-3
Author(s):  
R. El Qadiry ◽  
A. Ouayad ◽  
H. Nassih ◽  
A. Bourrahouat ◽  
I. Ait Sab

Pituitary stalk interruption syndrome (PSIS) is a very rare entity, and the clinical manifestations are nonspecific. Neonatal cholestasis due to endocrine disorders is rare and poorly recognized. Our case report describes a case of PSIS in a Moroccan infant revealed by isolated neonatal cholestasis, which is an unusual presentation in children. Case report. A 40-day-old girl was admitted to our department for progressive cholestatic jaundice appeared on the third day of life. She was born from a non-consanguineous marriage, and her prenatal and perinatal history went without incident. Physical examination showed icteric skin and sclera, without hepatomegaly. Analysis of pituitary hormones revealed panhypopituitarism. On brain magnetic resonance imaging (MRI), the pituitary stalk was absent, the posterior pituitary was ectopic, and the anterior pituitary was hypoplastic. The patient was diagnosed with interrupted pituitary stalk syndrome. The treatment consisted of hormone replacement with rapid improvement of her clinical condition. Conclusion. Panhypopituitarism, a consequence of PSIS, is a rare cause of neonatal cholestasis. However, pediatricians should keep this syndrome in mind for patients who present with neonatal cholestasis.


Author(s):  
Marta Baszyńska-Wilk ◽  
Elżbieta Moszczyńska ◽  
Maria Szarras-Czapnik ◽  
Marta Wysocka-Mincewicz ◽  
Urszula Wątrobińska ◽  
...  

Author(s):  
Melikşah Keskin ◽  
Aylin Kılınç Uğurlu ◽  
Şenay Savaş-Erdeve ◽  
Elif Sağsak ◽  
Sare Gülfem Akyüz ◽  
...  

Abstract17α-Hydroxylase/17-20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia. Genetic defects causing combined 17OHD lead to the impaired production of cortisol and sex steroids, accumulation of mineralocorticoids, and compensatory overproduction of pituitary adrenocorticotropic hormone. Consequently, individuals with this enzymatic defect present with both adrenal cortical hyperplasia and variable degrees of hypertension, hypokalemia, and sexual immaturity. The patient was aged 15 years and 3 months and she was diagnosed with 17OHD while she was being evaluated for complaints of delayed puberty. In the present case, p.Y27*(c.81C>A) mutation was revealed in the sequence analysis of the


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