Results 21 to 30 of about 72,115 (280)

2D:4D Suggests a Role of Prenatal Testosterone in Gender Dysphoria [PDF]

, 2020
Gender dysphoria (GD) reflects distress caused by incongruence between one’s experienced gender identity and one’s natal (assigned) gender. Previous studies suggest that high levels of prenatal testosterone (T) in natal females and low levels in natal ...
Fazeli, Nasrin, Honekopp, Johannes, Khorashad, Behzad S., Sadr, Mostafa, Talaei, Ali   +4 more
core   +2 more sources

Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency

Italian Journal of Pediatrics, 2017
Background Lipoid congenital adrenal hyperplasia (CAH) (OMIM n. 201710) is the most severe form of congenital adrenal hyperplasia. It is characterized by severe adrenal and gonadal steroidogenesis impairment due to a defect in the conversion of ...
Carla Bizzarri, Elisa Pisaneschi, Mafalda Mucciolo, Stefania Pedicelli, Daniela Galeazzi, Antonio Novelli, Marco Cappa   +6 more
doaj   +1 more source

Modelling adrenal steroid profiles to inform monitoring guidance in congenital adrenal hyperplasia. [PDF]

EBioMedicine
Lawrence NR, Dawson J, Lang ZQ, Prete A, Baranowski ES, Schiffer L, Taylor AE, Brac de la Perrière A, Hirschberg AL, Juul A, Merke DP, Newell-Price J, Rees DA, Reisch N, Stikkelbroeck N, Touraine PA, Krone N, Keevil B, Collins GS, Arlt W, Ross RJM.   +20 more
europepmc   +3 more sources

Growth Patterns in the First Three Years of Life in Children with Classical Congenital Adrenal Hyperplasia Diagnosed by Newborn Screening and Treated with Low Doses of Hydrocortisone [PDF]

, 2011
Background: Linear growth is the best clinical parameter for monitoring metabolic control in classical congenital adrenal hyperplasia (CAH). Objective: To analyze growth patterns in children with CAH diagnosed by newborn screening and treated with ...
Bonfig, W., Schmidt, H., Schwarz, H. P.
core   +1 more source

SEVERE METABOLIC DISORDER – CAUSE OF DEATH AT A NEWBORN SUFFERING FROM CHRONIC CONDITION [PDF]

Romanian Journal of Pediatrics, 2017
Congenital adrenal hyperplasia is an autosomal recessive disorder of adrenal steroid biosynthesis, children born from consanguinity relationships have the highest burden of disease.
Roxana Tanase, Alina Stoicescu, Elena Georgescu, Carmen Pascu, Serban Rogoz, Oana Falup-Pecurariu   +5 more
doaj   +1 more source

Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 Oxidoreductase deficiency [PDF]

, 2010
Context: P450 oxidoreductase (POR) is a crucial electron donor to all microsomal P450 cytochrome (CYP) enzymes including 17α-hydroxylase (CYP17A1), 21-hydroxylase (CYP21A2) and P450 aromatase.
Adachi, Antley, Arlt, Auchus, Belgorosky, Birgit Köhler, Bulun, Byskov, Cedric H. L. Shackleton, Dharia, Dhir, Dominique Maiter, Ewa M. Malunowicz, Falhammar, Felicity Collins, Flück, Fujieda, Fukami, Fukami, Fukami, Grondahl, Grøndahl, Hague, Huang, Huang, Idkowiak, Jan Idkowiak, Jin, Krone, Latronico, Luitgard Margarete Graul-Neumann, Mallin, Mann, Maria Szarras-Czapnik, Martin Silink, Mehul Dattani, Michiel N. Kerstens, Mullis, New, Nguyen, Nicole Reisch, Nils Krone, Otto, Ribes, Rosa, Roux, Rozman, Sahakitrungruang, Schmidt, Shackleton, Shima, Stephen O'Riordan, Suzuki, Tanae, ten Kate-Booij, Tomalik-Scharte, Wang, Wang, Wiebke Arlt, Wilson   +59 more
core   +2 more sources

Sex assignment in conditions affecting sex development [PDF]

, 2017
The newborn infant with atypical genitalia presents a challenging clinical scenario and requires expert input. There have been appreciable advances in our knowledge of the underlying causes that may lead to a mere difference or a more serious disorder of
Ahmed, S. Faisal, Markosyan, Renata
core   +1 more source

Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure [PDF]

, 2005
Disruption of the P450 side-chain cleavage cytochrome (P450scc) enzyme due to deleterious mutations of the CYP11A1 gene is thought to be incompatible with fetal survival because of impaired progesterone production by the fetoplacental unit.
Achermann, JC, Hiort, O, Holterhus, PM, Hoppe, U, Marschke, C, Partsch, CJ, Riepe, FG, Struve, D, Werner, R   +8 more
core   +1 more source

Extensive ARMC5 genetic variance in primary bilateral macronodular adrenal hyperplasia that started with exophthalmos: a case report

Journal of Medical Case Reports, 2018
Background Primary bilateral macronodular adrenal hyperplasia is a rare cause of Cushing’s syndrome characterized by the presence of bilateral secretory adrenal nodules. Recent studies have shown that primary bilateral macronodular adrenal hyperplasia is
Ping Jin, Muhammad Usman Janjua, Qin Zhang, Chang-sheng Dong, Youbo Yang, Zhao-hui Mo   +5 more
doaj   +1 more source

Psychiatric characterization of children with genetic causes of hyperandrogenism [PDF]

, 2010
Objective: Very little is known about the mental health status in children with genetic causes of hyperandrogenism. This study sought to characterize psychiatric morbidity in this group. Design/methods: Children (8-18 years) with the diagnosis of classic
Ernst, Monique, Green-Golan, Liza, Leschek, Ellen, Merke, Deborah, Müller, Sven, Ng, Pamela, Sinaii, Ninet, VanRyzin, Carol   +7 more
core   +2 more sources