Results 111 to 120 of about 5,328,161 (151)

Improvements in screening test, diagnosis, and outcomes of children with congenital hypothyroidism: lessons learned from 50 years of newborn screening. [PDF]

Endocrine
Salerno M, Vigone MC, Cassio A, Cavarzere P, Cherubini V, Faienza MF, Gastaldi R, Tuli G, Wasniewska M, Olivieri A.   +9 more
europepmc   +1 more source

Endocrinology at a Miniature Level: Pluripotent Stem-Cell-Derived Organoid Models of Hypothalamus-Pituitary Axes. [PDF]

Biomolecules
Abaylı B, Van Gestel U, Vankelecom H, Laporte E.   +3 more
europepmc   +1 more source

Functional and transcriptomic insights into 46,XY disorders of sex development associated with NR5A1 gene variants. [PDF]

Biol Sex Differ
Liu Q, Zang S, Li Y, Yin X, Li P.
europepmc   +1 more source

Spectrum and genotype-phenotype correlation of NR5A1 variants in 46,XY DSD: a systematic review and meta-analysis. [PDF]

Endocr Connect
Dallago RT, Batista RL, Domenice S, Nunes-Nogueira VDS, Mendonca BB.   +4 more
europepmc   +1 more source

The emergence of multiple testicular cell lineages in human stem cell-derived testis-like organoids. [PDF]

Development
Pachernegg S, Robevska G, Ferreira LGA, Charitakis N, Gu J, Terhag J, Martin E, Bienroth D, van den Bergen J, Wilson SB, Rossello FJ, Rollo B, Little MH, Ramialison M, Sinclair AH, Ayers KL.   +15 more
europepmc   +1 more source

Advances in the Diagnosis of Reproductive Disorders in Female Camelids. [PDF]

Animals (Basel)
Sghiri A, Ciccarelli M, Waqas MS, Anouassi A, Tibary A.   +4 more
europepmc   +1 more source

37,X/38,XY mosaicism in a cat with a female phenotype and an enlarged clitoris. [PDF]

J Vet Med Sci
Yoshimura A, Kondo T, Morita S, Hirao D, Suzuki K, Fukushima R.   +5 more
europepmc   +1 more source

A novel mutation of the luteinizing hormone/choionic gonadotrophin receptor gene leading to Leydig cell hypoplasia type I

, 2014
Potorac, Iulia, Rivero-Müller, A, Pintiaux, Axelle, Daly, Adrian, THIRY, Albert, Rydlewski, Catherine, NISOLLE, Michelle, Parent, Anne-Simone, Huhtaniemi, Ilpo, Beckers, Albert   +9 more
openaire   +3 more sources

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Leydig Cell Hypoplasia: A Cause of Male Pseudohermaphroditism.

Journal of Clinical Endocrinology and Metabolism, 1978
A patient with male pseudohermaphroditism is presented whose testicular biopsy showed marked paucity of the Leydig cell populations to which is attributed testosterone deficiency and impaired spermatogenesis.
Louis P. Dehner, Colin Markland, D M Brown   +2 more
exaly   +3 more sources

A Clinico-Genetic Investigation of Leydig Cell Hypoplasia

American Journal of Medical Genetics, Part A, 1987
AbstractWe report on a kindred including a patient (46,XY) with typical manifestations of Leydig cell hypoplasia who was born to parents who were first cousins. A sister had secondary amenorrhea possibly due to primary ovarian dysfunction. Analysis of six pedigrees fits to a male‐limited autosomal recessive pattern of inheritance; its implication for ...
Ivo J P Arnhold, Berenice Bilharinho Mendonça, S P Toledo   +2 more
exaly   +3 more sources