Cargando…

Congenital lipoid adrenal hyperplasia in a Saudi infant

SUMMARY: Congenital lipoid adrenal hyperplasia (CLAH) is characterized by a defect in the STAR protein-encoding gene that attenuates all steroidogenesis pathways. Herein, we present the first reported case in Saudi Arabia of a 46 XY, phenotypically female infant with an unfamiliar, darkened complexi...

Descripción completa

Detalles Bibliográficos
Autores principales:	Subki, Siham Hussein, Wadea Mohammed Hussain, Raghad, Al-Agha, Abdulmoein Eid
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Bioscientifica Ltd 2022
Materias:	Unique/Unexpected Symptoms or Presentations of a Disease
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9513656/ https://www.ncbi.nlm.nih.gov/pubmed/36053179 http://dx.doi.org/10.1530/EDM-22-0294

Ejemplares similares

Giant bilateral adrenal lipoma in a patient with congenital adrenal hyperplasia
por: Kienitz, Tina, et al.
Publicado: (2021)

Large testicular adrenal rest tumours in a patient with congenital adrenal hyperplasia
por: Rajkanna, J, et al.
Publicado: (2015)

Massive adrenal incidentalomas and late diagnosis of congenital adrenal hyperplasia in prostate cancer
por: Feng, Xin, et al.
Publicado: (2017)

Giant myelolipomas and inadvertent bilateral adrenalectomy in classic congenital adrenal hyperplasia
por: Kale, Geetanjali, et al.
Publicado: (2015)

Late diagnosis of classic congenital adrenal hyperplasia: long-term consequences during adulthood
por: Aveiro-Lavrador, Mariana, et al.
Publicado: (2021)

A rare variety of congenital adrenal hyperplasia with mosaic Klinefelter syndrome: a unique combination presenting with ambiguous genitalia and sexual precocity
por: Shehab, M A, et al.
Publicado: (2018)

An unusual cause of adrenal insufficiency and bilateral adrenal masses
por: Tee, Su Ann, et al.
Publicado: (2018)

A case of adrenal Cushing’s syndrome with bilateral adrenal masses
por: Guo, Ya-Wun, et al.
Publicado: (2016)

Thyrotoxicosis leading to adrenal crises reveals primary bilateral adrenal lymphoma
por: Roque, Catarina, et al.
Publicado: (2017)

Severe bilateral adrenal hemorrhages in a newborn complicated by persistent adrenal insufficiency
por: Zessis, Nicholas R, et al.
Publicado: (2018)

Double trouble: two cases of dual adrenal pathologies in one adrenal mass
por: Chortis, Vasileios, et al.
Publicado: (2019)

Adrenal gland haemorrhages following motor vehicle accident with resultant adrenal insufficiency
por: Szwarcbard, Naomi, et al.
Publicado: (2022)

Primary adrenal lymphoma as a cause of adrenal insufficiency, a report of two cases
por: Grønning, Kaja, et al.
Publicado: (2020)

Bilateral adrenal masses due to tuberculosis: how to diagnose without extra-adrenal tuberculosis
por: Tran, Nam Quang, et al.
Publicado: (2021)

An incidental finding behind adrenal incidentaloma
por: Crimì, Filippo, et al.
Publicado: (2022)

New-onset primary adrenal insufficiency in pregnancy associated with a unilateral adrenal infarction: a case report
por: Menon, Lakshmi, et al.
Publicado: (2023)

Pituitary hyperplasia: an uncommon presentation of a common disease
por: Neves, C P, et al.
Publicado: (2015)

An infant with congenital nephrogenic diabetes insipidus presenting with hypercalcemia and hyperphosphatemia
por: Tao, Katsuo, et al.
Publicado: (2021)

Recurrent benign adrenal pheochromocytomas associated with hemihypertrophy
por: Pikilidou, Maria, et al.
Publicado: (2014)

Benign adrenal adenomas secreting excess mineralocorticoids and glucocorticoids
por: Yoon, Vivienne, et al.
Publicado: (2013)

Glucocorticoid-induced adrenal insufficiency: an uncommon cause of hypercalcaemia
por: De Silva, S D N, et al.
Publicado: (2022)

Recovery of adrenal function in a patient with confirmed Addison's disease
por: Baxter, M, et al.
Publicado: (2013)

Somatic RET mutation in a patient with pigmented adrenal pheochromocytoma
por: Maison, Nicole, et al.
Publicado: (2016)

Acute heart failure with incidentally found cystic adrenal mass
por: Bhat, Salman Zahoor, et al.
Publicado: (2023)

Pituitary hyperplasia: case series and literature review of an under-recognised and heterogeneous condition
por: De Sousa, Sunita M C, et al.
Publicado: (2015)

Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism
por: Chandran, Suresh, et al.
Publicado: (2013)

Hyponatremia after anticoagulant treatment: a rare cause of adrenal failure
por: Zampetti, Benedetta, et al.
Publicado: (2018)

Aldosterone- and cortisol-cosecreting adrenal adenoma, ovarian hyperthecosis and breast cancer
por: J Orrego, John, et al.
Publicado: (2020)

A case of primary aldosteronism with secondary hyperparathyroidism and bilateral adrenal tumors
por: Eguchi, Tohru, et al.
Publicado: (2015)

Myotonic dystrophy type 1 with diabetes mellitus, mixed hypogonadism and adrenal insufficiency
por: Takeshima, Ken, et al.
Publicado: (2018)

Adrenal insufficiency from steroid-containing complementary therapy: importance of detailed history
por: Kempegowda, Punith, et al.
Publicado: (2019)

Hypertension due to a deoxycorticosterone-secreting adrenal tumour diagnosed during pregnancy
por: Marques, Pedro, et al.
Publicado: (2019)

Hiccups as the first presentation of secondary adrenal insufficiency associated with advanced cervical cancer
por: Sawamura, Toshitaka, et al.
Publicado: (2022)

De novo purely prostatic large-cell neuroendocrine carcinoma with thyroid and adrenal metastases
por: Karvounis, Evangelos, et al.
Publicado: (2022)

Adrenal insufficiency in a child following unilateral excision of a dual-hormone secreting phaeochromocytoma
por: Sjoeholm, Annika, et al.
Publicado: (2015)

Pheochromocytoma arising from an ectopic adrenal tissue in multiple endocrine neoplasia type 2A
por: Ohsugi, Haruyuki, et al.
Publicado: (2019)

A case of unilateral post-COVID-19 adrenal haemorrhage and follow-up during pregnancies
por: Mangone, Alessandra, et al.
Publicado: (2022)

Stress-induced severe transient hypercortisolism with reversible bilateral adrenal enlargement after cardiogenic shock
por: Noreña, Jairo Arturo, et al.
Publicado: (2023)

Congenital hyperinsulinism and panhypopituitarism: a rare combination
por: Patel, Foram, et al.
Publicado: (2023)

Adrenal crisis in a 14-year-old boy 12 years after hematopoietic stem cell transplantation
por: Penger, Theresa, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_18f5bgq0v9lrbqht5s652l6ihf