Results 131 to 140 of about 19,833 (220)

21-Hydroxylase Deficient Congenital Adrenal Hyperplasia Due to Maternal Uniparental Isodisomy. [PDF]

Case Rep Endocrinol
Kluge ML, Schema L, Schroepfer K, Thoreson EK, Sarafoglou K, Rowsey RA, Marcou CA, Moyer AM, Schultz MJ.   +8 more
europepmc   +1 more source

Nonclassic congenital adrenal hyperplasia and bilateral pheochromocytomas in a patient with a germline pathogenic <i>MAX</i> variant. [PDF]

JCEM Case Rep
Parisien-La Salle S, Legault J, Dumas N, Arjane P, Trudel D, Bourdeau I.   +5 more
europepmc   +1 more source

Congenital Adrenal Hyperplasia in the Mediterranean: A Concise Overview. [PDF]

Pharmaceuticals (Basel)
Fanis P, Skordis N, Tomazou M, Phylactou LA, Neocleous V.   +4 more
europepmc   +1 more source

Rare coexistence of aldosterone resistance and adrenal insufficiency in asymptomatic infant with persistent hyperkalaemia: A case report. [PDF]

World J Clin Pediatr
Wan-Nik FH, Zulkeflee HA, Ab Rahim NS, Tuan-Ismail ST.   +3 more
europepmc   +1 more source

A Neonatal Salt-Wasting Crisis Mimicking Congenital Adrenal Hyperplasia: A Case of Transient Pseudohypoaldosteronism. [PDF]

Cureus
Abdulsalam TA, Obaisi TA.
europepmc   +1 more source

Early Risk Stratification in Non-Classical Congenital Adrenal Hyperplasia Based on Newborn 17-OHP Screening Values, Hormonal Findings, and Genotype. [PDF]

J Clin Med
Munarin J, Tuli G, Pavanello E, De Sanctis L.   +3 more
europepmc   +1 more source

Unveiling Salt-Wasting Congenital Adrenal Hyperplasia in an Infant: A Diagnostic Challenge. [PDF]

Cureus
Kummari S, Krishna Sravya M, R M.
europepmc   +1 more source

Adult congenital adrenal hyperplasia presenting with severe clitoromegaly and distal vaginal stenosis: A reconstructive surgical case report. [PDF]

Urol Case Rep
Alatawi M, Barry M, Almannie R, Althunayan A, Albassam AA, Aldakhil LO.   +5 more
europepmc   +1 more source

Case Report: Compound heterozygous mutation comprising p.Pro31Leu and exons 1-3 ins/del variants in <i>CYP21A2</i> causes non-classical congenital adrenal hyperplasia in a Chinese girl. [PDF]

Front Pediatr
Li N, Lu C, Gu HF, An X.
europepmc   +1 more source

Twelve Brazilian families with X-linked Congenital Adrenal Hypoplasia: new rearrangements and new variants in the NR0B1 gene. [PDF]

J Pediatr (Rio J)
Esquiaveto-Aun AM, de Lemos-Marini SHV, Guaragna MS, Mazzola TN, de Ferran K, Berardo RS, Gilban DLS, Schnaider GS, Kopacek C, Madeira IR, Nascimento ML, de Mello MP, Guerra-Junior G.   +12 more
europepmc   +1 more source