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A New Variant in Signal Peptide of the Human Luteinizing Hormone Receptor (LHCGR) Affects Receptor Biogenesis Causing Leydig Cell Hypoplasia [PDF]

Human Molecular Genetics, 2015
The human luteinizing hormone/chorionic gonadotropin receptor (LHCGR) plays a fundamental role in male and female reproduction. In males, loss-of-function mutations in LHCGR have been associated with distinct degrees of impairment in pre- and postnatal ...
Marco Bonomi, Ralf Schülein, Valeria Vezzoli   +2 more
exaly   +2 more sources

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Laparoscopic bilateral gonadectomy in a phenotypic woman with a form of Leydig cell hypoplasia

The Journal of the American Association of Gynecologic Laparoscopists, 1996
A 22-year-old phenotypic woman with an XY karyotype underwent laparoscopic gonadectomy after a comprehensive evaluation for primary amenorrhea. Pathology revealed primitive testicular support elements with absent Leydig cells bilaterally. This case illustrates the fact that, with a thorough preoperative workup, patients expressing various forms of male
S M, Qasim, R, Sachdev
openaire   +2 more sources

A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia

Human Molecular Genetics, 1995
Leydig cell hypoplasia (LCH) is a form of male pseudohermaphroditism in which Leydig cell differentiation and testosterone production are impaired. This report describes the first case of a nonsense mutation (A1635C) in exon 11 of the human luteinizing hormone receptor (hLHR) gene in two sisters with LCH.
Louisa Laue, Shao-Ming Wu, Masataka Kudo, Aaron J.W. Hsueh, Gordon B. Cutler, James E. Griffin, Jean D. Wilson, Caroline Brain, A.Caroline Berry, David B. Grant, Wai-Yee Chan   +10 more
openaire   +2 more sources

[Leydig cell hypoplasia(agenesis)].

Nihon rinsho. Japanese journal of clinical medicine, 2004
Leydig cell hypoplasia(LCH) or agenesis, which has an autosomal recessive inheritance pattern, is a well defined form of male pseudohermaphroditism resulting from inadequate fetal testicular Leydig cell differentiation. These patients exhibit a wide clinical spectrum that ranges from phenotypic females to males with micropenis, and have low levels of ...
Satomi, Koyama, Osamu, Arisaka
openaire   +1 more source

Leydig Cell Hypoplasia Causing Male Pseudohermaphroditism: Diagnosis 13 Years after Prepubertal Castration*

The Journal of Clinical Endocrinology & Metabolism, 1984
An 11-yr-old patient with male pseudohermaphroditism who was castrated at nine days of age and raised thereafter as a female was evaluated to determine the cause of abnormal sexual differentiation. Stimulation with ACTH for 8 h revealed no abnormality in the biosynthesis of cortisol or adrenal androgens.
C, Eil, R M, Austin, I, Sesterhenn, J F, Dunn, G B, Cutler, R E, Johnsonbaugh   +5 more
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[Hypoplasia of Leydig's cells as a cause of male pseudohermaphroditism].

Polski tygodnik lekarski (Warsaw, Poland : 1960), 1989
A case of male hermaphroditism is presented. It complied with all traditional criteria of male hermaphroditism due to Leydig's cells hypoplasia (anomaly of the internal genitalia, karyotype 46, XY, presence of the testicular tissue, no response of the hypoplastic Leydig's cells to HCG stimulation with simultaneous dramatic decrease in their number in ...
M, Medraś, B, Bidzińska, J, Rabczyński, G, Nowicki   +3 more
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Leydig cell hypoplasia: cases with new mutations, new polymorphisms and cases without mutations in the luteinizing hormone receptor gene

Clinical Endocrinology, 2002
Summarybackground Defective male sex differentiation in patients with hypoplasia of Leydig cells (LCH) is caused by deficient LH receptor signal transduction. To further investigate the variety of LH receptor gene mutations present in LCH patients and their influence on the phenotype, we examined 10 nonrelated patients with the clinical presentation of
Richter-Unruh, A., Martens, J.W., Verhoef-Post, M., Wessels, H.T., Kors, W.A., Sinnecker, G.H., Boehmer, A.L., Drop, S.L., Toledo, S.P., Brunner, H.G., Themmen, A.P.N.   +10 more
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[Genetic diagnosis for a patient with Leydig cell hypoplasia caused by two novel variants of LHCGR gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2020
To explore the genetic basis for a patient with Leydig cell hypoplasia.Whole exome sequencing was used to detect genetic variants in the patient. Suspect variants were verified by PCR and Sanger sequencing of the family members.The patient was found to carry two novel variants, namely c.265A>T (p.Ile189Leu) and c.422T>C (p.Val141Ala), of the ...
Junke, Xia, Luping, Li, Fuhua, Duan, Jingjing, Meng, Shuping, Yan, Shenglei, Li, Huayan, Ren, Xiangdong, Kong   +7 more
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Male pseudohermaphroditism Leydig cell hypoplasia

Endocrine Abstracts, 2013
Sandra Belo, Angela Magalhaes, Davide Carvalho   +2 more
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Male pseudohermaphroditism resulting from Leydig cell hypoplasia

The Journal of Pediatrics, 1985
Ivo J.P. Arnhold, Berenice B. Mendonça, Walter Bloise, Sérgio P.A. Toledo   +3 more
openaire   +1 more source