Results 1 to 10 of about 5,328,161 (151)

Leydig cell hypoplasia type 1 diagnosed in early childhood with inactivating mutation in LHCGR gene. [PDF]

Oxf Med Case Reports, 2021
ABSTRACT Leydig cell aplasia/hypoplasia is an autosomal recessive condition. In its complete form, these patients are 46XY but are cryptorchid and phenotypically female. Most cases reported in literature presented with in adolescence with pubertal delay.
Çömlek FÖ, Yıldız R, Seyrek F, Tütüncüler F.   +3 more
europepmc   +8 more sources

Successful testicular sperm recovery and IVF treatment in a man with Leydig cell hypoplasia. [PDF]

J Assist Reprod Genet, 2014
Fetal sex differentiation of the male involves complex processes and is dependent on the androgen production from fetal Leydig cells triggered by placental human chorionic gonadotropin (hCG) [1, 2]. It is later replaced by luteinizing hormone (LH) that is secreted by the fetal pituitary gland during gestation [3].
Bakircioglu ME, Tulay P, Findikli N, Erzik B, Gultomruk M, Bahceci M.   +5 more
europepmc   +5 more sources

NR2F2 regulation of interstitial cell fate in the embryonic mouse testis and its impact on differences of sex development [PDF]

Nature Communications
Testicular fetal Leydig cells produce androgens essential for male reproductive development. Impaired fetal Leydig cell differentiation leads to differences of sex development including hypospadias, cryptorchidism, and infertility.
Martín Andrés Estermann, Sara A. Grimm, Abigail S. Kitakule, Karina F. Rodriguez, Paula R. Brown, Kathryn McClelland, Ciro M. Amato, Humphrey Hung-Chang Yao   +7 more
doaj   +3 more sources

A novel variant luteinizing hormone receptor in the first transmembrane helix of two homozygous Iranian patients: case report

Egyptian Journal of Medical Human Genetics, 2022
Background Leydig cell hypoplasia (LCH) is a rare autosomal recessive endocrine syndrome that affects the normal development of male external genitalia in 46, XY individuals and is one of the causes of disorder of sexual differentiation (DSD) in males ...
Samaneh Sharif, Saba Vakili, Moein Mobini, Malihe Lotfi, Fatemeh Zarei, Mohammad Reza Abbaszadegan, Rahim Vakili   +6 more
doaj   +4 more sources

LEYDIG CELL HYPOPLASIA: A UNIQUE PARADOX IN THE DIAGNOSIS OF 46,XY DISORDERS OF SEX DEVELOPMENT. [PDF]

AACE Clin Case Rep, 2020
Disorders of sex development (DSD) are defined as conditions in which chromosomal sex is inconsistent with phenotypic sex, or in which the phenotype is not classifiable as either male or female. Mutations in genes present in X, Y or autosomal chromosomes can cause abnormalities of testis determination or 46,XY DSD.
Jahan S, Abul Hasanat M, Alam F, Fariduddin M, Tofail T.   +4 more
europepmc   +5 more sources

Testicular Disorders in Equids: A Case Series [PDF]

Animals
Equine testicular disorders represent a diverse group of conditions that impact the longevity of a stallion’s breeding career. Stud farm veterinarians should be familiar with the variety of clinical presentations and diagnostic options for these ...
Giuseppe Catone, Valentina Palmieri, Giada Giambrone, Gabriele Marino, Gian Enrico Magi, Francesca Mariotti, Cecilia Vullo, Michela Ciccarelli   +7 more
doaj   +2 more sources

Clinical Course of Severe Perineal Hypospadias with Cryptorchid Testicular Tumors in a Dog: Contextual Reference to Developmental and Endocrine Transcriptomic Pathways [PDF]

Current Issues in Molecular Biology
Hypospadias is a congenital malformation of the male external genitalia resulting from incomplete fusion of the urethral folds during embryonic development.
Nuri Lee, Kibum Kwon, Ahsa Oh, Kyuhyung Choi   +3 more
doaj   +2 more sources

A Homozygous Mutation in the Luteinizing Hormone Receptor Causes Partial Leydig Cell Hypoplasia: Correlation Between Receptor Activity and Phenotype [PDF]

Molecular Endocrinology, 1998
Leydig cell hypoplasia (LCH) is characterized by a decreased response of the Leydig cells to LH. As a result, patients with this syndrome display aberrant male development ranging from complete pseudohermaphroditism to males with micropenis but with otherwise normal sex characteristics. We have evaluated three brothers with a mild form of LCH. Analysis
Han G. Brunner, Axel P N Themmen, Miriam Verhoef-Post   +2 more
exaly   +7 more sources

Reproductive toxicity in male rats induced by chronic arsenic exposure involves hormonal and structural changes [PDF]

Scientific Reports
The current research focused on the chronic effect of arsenic (As3+, As III) on the reproductive system in male rats. Fifty male rats (190 ± 10 g) were separated into five groups to assess Arsenic induced physiological, hormonal and histopathological ...
Syed Zahid Mahboob, Sarwat Jahan, Hussain Badshah, Razia Virk, Mehwish David, Riffat Bano, Jawaher Alzahrani, Muhammad Ayub, Azizullah Azizullah, Moona Nazish, Asif Kamal, Kamran Ullah, Muhammad Tahir Naseem   +12 more
doaj   +2 more sources

Leydig Cell Hypoplasia: Absent Luteinizing Hormone Receptor Cell Surface Expression Caused by a Novel Homozygous Mutation in the Extracellular Domain. [PDF]

Journal of Clinical Endocrinology and Metabolism, 2004
Leydig cell hypoplasia is a rare autosomal recessive condition that interferes with normal development of male external genitalia in 46,XY individuals. We have studied a family with a 46,XY girl due to a new homozygous mutation (V144F) in the extracellular ligand-binding domain.
Axel P N Themmen, J Homoki, A Richter-Unruh   +2 more
exaly   +3 more sources