Results 11 to 20 of about 2,122 (197)

Children with premature pubarche: is an alterated neonatal 17-Ohp screening test a predictive factor? [PDF]

Italian Journal of Pediatrics, 2018
Background Neonatal screening for 21 hydroxylase deficiency is designed to detect classical form of congenital adrenal hyperplasia (CAH). It is still unclear whether newborns who result false positives at neonatal screening might later develop signs of ...
Paolo Cavarzere, Margherita Mauro, Monica Vincenzi, Silvana Lauriola, Francesca Teofoli, Rossella Gaudino, Diego Alberto Ramaroli, Rocco Micciolo, Marta Camilot, Franco Antoniazzi   +9 more
doaj   +2 more sources

Deletion in the uridine diphosphate glucuronyltransferase 2B17 gene is associated with delayed pubarche in healthy boys [PDF]

Endocrine Connections, 2018
Objective: Only a few genetic loci are known to be associated with male pubertal events. The ability of excreting testosterone (T) and other steroids in the urine depends on sulfation and glucuronidation.
Annette Mouritsen, Alexander Siegfried Busch, Lise Aksglaede, Ewa Rajpert-De Meyts, Anders Juul   +4 more
doaj   +2 more sources

Evaluation of insulin resistance in Turkish girls with premature pubarche using the homeostasis assessment (HOMA) model [PDF]

The Turkish Journal of Pediatrics, 2007
Premature pubarche can be benign, or it can be an early marker of insulin resistance in some girls. The aim of this study was to evaluate insulin resistance in prepubertal girls presenting with premature pubarche (n = 19; mean age = 6.93 +/- 1.78)
Olcay Evliyaoğlu, Merih Berberoğlu, Pelin Adiyaman, Zehra Aycan, Gönül Ocal   +4 more
doaj   +2 more sources

Inactivating PAPSS2 Mutations in a Patient with Premature Pubarche [PDF]

New England Journal of Medicine, 2009
Dehydroepiandrosterone (DHEA) sulfotransferase, known as SULT2A1, converts the androgen precursor DHEA to its inactive sulfate ester, DHEAS [corrected], thereby preventing the conversion of DHEA to an active androgen. SULT2A1 requires 3'-phosphoadenosine-5'-phosphosulfate (PAPS) for catalytic activity. We have identified compound heterozygous mutations
Noordam, C., Dhir, V., McNelis, J.C., Schlereth, F., Hanley, N.A., Krone, N., Smeitink, J.A.M., Smeitink, J.A.M., Smeets, R., Sweep, C.G.J., Claahsen-van der Grinten, H.L., Arlt, W.   +11 more
openaire   +3 more sources

Adrenarche and pubarche in girls with turner syndrome during growth-promoting therapy with human growth hormone [PDF]

BMC Endocrine Disorders, 2019
Background Data on adrenarche and pubarche in girls with Turner syndrome (TS) are inconsistent in the literature. Methods The cohort consisted of 94 girls and young women with TS born between 1971 and 2001 (age range: 3.1–23.2 yrs.), who were treated ...
Helmuth G. Dörr, Theresa Penger, Michaela Marx, Manfred Rauh, Patricia G. Oppelt, Thomas K. M. Völkl   +5 more
doaj   +2 more sources

Age at pubarche and the risk of developing cardiometabolic complications among 50–52-year-old men from Krakow Longitudinal Study (Poland) [PDF]

Anthropological Review
Despite contradictory observations, it has been postulated that early age of adrenarche predisposes to an increased risk of cardiometabolic complications in further ontogeny due to greater body fatness.
Barbara Anna Spring, Agnieszka Woronkowicz, Ryszard Żarów, Małgorzata Kowal   +3 more
doaj   +2 more sources

Adrenal Biomarkers of Stress in Transgender and Gender-Diverse Adolescents. [PDF]

Dev Psychobiol
ABSTRACT Transgender and gender diverse (TGD) adolescents are frequently exposed to minority stress, which may influence the hypothalamic–pituitary–adrenal (HPA) axis during critical developmental windows. Altered cortisol dynamics have been described in populations facing chronic stress, yet evidence in TGD youth is limited.
Coslovich S, Tonetto S, Bragato G, Tamaro G, Fachin A, Dalena P, Zandonà L, Fabretto A, Barbi E, Tornese G.   +9 more
europepmc   +2 more sources

Assessing Pubertal Timing, Duration, and Related Characteristics in ASXL-Related Disorders: A Cross-Sectional Caregiver Survey Analysis. [PDF]

Am J Med Genet A
ABSTRACT Limited studies have been conducted on pubertal development in populations with pre‐existing medical conditions. More than 20‐fold increased risk of early puberty has been reported in neurodevelopmental disorders; however, this is a heterogeneous group.
Piring A, Hicks R, Sloan J, Ramires-Sanchez E, Russell BE.   +4 more
europepmc   +2 more sources

Mutation detection of CYP21A2 gene in nonclassical congenital adrenal hyperplasia patients with premature pubarche

Advanced Biomedical Research, 2016
Background: Congenital adrenal hyperplasia (CAH) due to mutations in the gene encoding 21-hydroxilase is one of common disease with an autosomal recessive form.
Mahsa Kolahdouz, Mahin Hashemipour, Hossein Khanahmad, Bahareh Rabbani, Mansoor Salehi, Ali Rabbani, Arman Ansari, Mona Mobalegh Naseri   +7 more
doaj   +2 more sources

Predicted Adult Height Remained Normal in Children With Premature Adrenarche Despite Advanced Bone Age. [PDF]

Acta Paediatr
ABSTRACT Aim Aetiological factors affecting the phenotype of adrenarche are largely unknown. This study investigated the phenotypic variability of premature adrenarche. Methods In this cross‐sectional retrospective registry study, data on 91 mainly Caucasian children diagnosed with premature adrenarche were retrieved from patient records.
Kanniainen E, Jääskeläinen J, Liimatta J.   +2 more
europepmc   +2 more sources