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https://www.readbyqxmd.com/read/29618062/45-x-46-xy-mosaicism-presenting-with-isolated-unilateral-cryptorchidism-and-a-normal-blood-karyotype
#1
Grazia Morandi, Manuela Cerbone, Elisa B Lamback, Eleni Rapti, Mehul T Dattani
Context: 45,X/46,XY mosaicism is a disorder of sex development leading to abnormal gonadal development and to unpredictable genital phenotype, growth and pubertal development. Case Description: A two year old male presented with a right impalpable testis. Blood karyotype was 46,XY. A laparoscopy performed for right orchidopexy revealed a right streak gonad with Mullerian structures, while on the left side a normal descended testis was present. The karyotype of the removed gonad was 45,X/46,XY...
March 30, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29597124/plasma-igf-i-insl3-testosterone-inhibin-concentrations-and-scrotal-circumferences-surrounding-puberty-in-japanese-black-beef-bulls-with-normal-and-abnormal-semen
#2
W W P N Weerakoon, M Sakase, N Kawate, M A Hannan, N Kohama, H Tamada
The relationships between semen abnormalities and peripheral concentrations of testicular and metabolic hormones in beef bulls are unclear. Here we compared plasma insulin-like growth factor I (IGF-I), insulin-like peptide 3 (INSL3), testosterone, inhibin concentrations, and scrotal circumferences surrounding puberty in Japanese Black beef bulls (n = 66) with normal or abnormal semen. We collected blood samples and measured scrotal circumferences monthly from 4 to 24 months of age. Semen was collected weekly from 12 months until at least 18 months of age...
March 15, 2018: Theriogenology
https://www.readbyqxmd.com/read/29546931/-granulosa-cell-ovarian-tumor-precocious-puberty-in-infant-less-than-1-year-of-age-case-report
#3
Patricia Lacourt, Julio Soto, Hana Rumié, Roger Gejman, Juan Carlos Pattillo, Cristián García, Hernán García
INTRODUCTION: Juvenile granulosa cell tumors (JGCT) are very rare, especially in infants under the age of one. The most frequent presentation is with signs of precocious puberty. OBJECTIVE: Present an in fant with peripheral precocious puberty, diagnosis of JGCT and follow up. CLINICAL CASE: 10-month-old female infant with thelarche, pubic hair and palpable abdominal mass accompanied with eleva ted levels of estradiol, very low gonadotrophins and images that show a very large ovarian mass...
December 2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/29456864/curative-gnrha-treatment-has-an-unexpected-repressive-effect-on-sertoli-cell-specific-genes
#4
Katharina Gegenschatz-Schmid, Gilvydas Verkauskas, Philippe Demougin, Vytautas Bilius, Darius Dasevicius, Michael B Stadler, Faruk Hadziselimovic
Background: Follicle stimulating hormone and testosterone stimulate Sertoli cells to support germ cell function and differentiation. During mini-puberty, when gonadotropin (GnRH) stimulates increases in plasma luteinizing hormone (LH) and testosterone levels, gonocytes are transformed into Ad spermatogonia. In cryptorchidism, impaired gonadotropin secretion during mini-puberty results in insufficient LH and testosterone secretion, impaired gonocyte transition to Ad spermatogonia, and perturbed Sertoli cell proliferation...
2018: Basic and Clinical Andrology
https://www.readbyqxmd.com/read/29420188/human-3beta-hydroxysteroid-dehydrogenase-deficiency-associated-with-normal-spermatic-numeration-despite-a-severe-enzyme-deficit
#5
Bruno Donadille, Muriel Houang, Irene Netchine, Jean-Pierre Siffroi, Sophie Christin-Maitre
Human 3 beta-hydroxysteroid dehydrogenase deficiency (3b-HSD) is a very rare form of congenital adrenal hyperplasia resulting from HSD3B2 gene mutations. Its estimated prevalence is less than 1/1,000,000 male neonates. It leads to steroidogenesis impairment in both adrenals and gonads. Few data are available on adult testicular function in such patients. Therefore, we evaluated gonadal axis and testicular function in a 46,XY adult patient, carrying a HSD3B2 mutation. The patient presented at birth with neonatal salt wasting syndrome, a micropenis, perineal hypospadias and intrascrotal testes...
February 2, 2018: Endocrine Connections
https://www.readbyqxmd.com/read/29222425/polymorphisms-in-jmjd1c-are-associated-with-pubertal-onset-in-boys-and-reproductive-function-in-men
#6
Nina Mørup, Alexander Siegfried Busch, Anne Kirstine Bang, Loa Nordkap, John E Nielsen, Ewa Rajpert-De Meyts, Anders Juul, Niels Jørgensen, Kristian Almstrup
JMJD1C, a member of the Jumonji-domain containing histone demethylases protein family, has been associated with levels of sex-hormone binding globulin (SHBG) and testosterone in men, and knock-out rodent models show age-dependent infertility. The objective of this study was to investigate whether single nucleotide polymorphisms (SNPs) nearby JMJD1C are associated with pubertal onset in boys and with male reproduction. 671 peri-pubertal boys, 1,027 young men, 315 fertile men, and 252 infertile men were genotyped for two JMJD1C SNPs (rs7910927 and rs10822184)...
December 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29163975/on-the-descent-of-the-epididymo-testicular-unit-cryptorchidism-and-prevention-of-infertility
#7
REVIEW
Faruk Hadziselimovic
This comprehensive review provides in-depth coverage of progress made in understanding the molecular mechanisms underlying cryptorchidism, a frequent pathology first described in about 1786 by John Hunter. The first part focuses on the physiology, embryology, and histology of epididymo-testicular descent. In the last 20 years epididymo-testicular descent has become the victim of schematic drawings with an unjustified rejection of valid histological data. This part also includes discussion on the roles of gonadotropin-releasing hormone, fibroblast growth factors, Müllerian inhibiting substance, androgens, inhibin B, and insulin-like 3 in epididymo-testicular descent...
2017: Basic and Clinical Andrology
https://www.readbyqxmd.com/read/29029242/germ-cell-neoplasia-in-situ-and-preserved-fertility-despite-suppressed-gonadotropins-in-a-patient-with-testotoxicosis
#8
Li Juel Mortensen, Martin Blomberg Jensen, Peter Christiansen, Ann-Margrethe Rønholt, Anne Jørgensen, Hanne Frederiksen, John E Nielsen, Anand C Loya, Birgitte Grønkær Toft, Niels E Skakkebæk, Ewa Rajpert-De Meyts, Anders Juul
Context: Testotoxicosis is an autosomal-dominant, male-limited disorder. Activating mutations in the luteinizing hormone receptor gene (LHCGR) cause high autonomous testosterone secretion, resulting in early-onset peripheral precocious puberty. Little is known about long-term consequences of testotoxicosis. Case Description: We present a rare case of a patient followed for 25 years with two remarkable outcomes: preserved fertility and germ cell neoplasia in situ (GCNIS)...
December 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29022642/induction-of-puberty-with-human-chorionic-gonadotropin-hcg-followed-by-reversal-of-hypogonadotropic-hypogonadism-in-kallmann-syndrome
#9
Malgorzata Maria Pierzchlewska, Maciej Grzegorz Robaczyk, Ida Vogel
INTRODUCTION: Kallmann syndrome (KS) is a rare, congenital disorder combining hypogonadotropic hypogonadism (HH) due to GnRH-deficiency with anosmia. Traditionally thought to require lifelong therapy it turns out to be a reversible condition in some patients. CASE REPORT: We present a case of a 22-year old man with absent puberty due to KS, in whom genetic testing revealed heterozygosity for a mutation in the PROK2 gene. Pubertal development and virilisation was achieved by using human chorionic gonadotropin (hCG) injections followed by testosterone replacement...
October 12, 2017: Endokrynologia Polska
https://www.readbyqxmd.com/read/28641706/delayed-onset-of-puberty-in-male-offspring-from-bisphenol-a-treated-dams-is-followed-by-the-modulation-of-gene-expression-in-the-hypothalamic-pituitary-testis-axis-in-adulthood
#10
Isabela M Oliveira, Renata M Romano, Patricia de Campos, Monica D Cavallin, Claudio A Oliveira, Marco A Romano
Bisphenol A (BPA) is a synthetic endocrine-disrupting chemical of high prevalence in the environment, which may affect the function of the hypothalamic-pituitary-testis (HPT) axis in adult rats. The aim of the present study was to evaluate whether exposure to BPA during hypothalamic sexual differentiation at doses below the reproductive no observable adverse effect level of the World Health Organization causes changes in the regulation of the HPT axis. For this, 0.5 or 5mgkg-1 BPA was injected subcutaneously to the mothers from gestational day 18 to postnatal day (PND) 5...
June 23, 2017: Reproduction, Fertility, and Development
https://www.readbyqxmd.com/read/28544660/altered-secretion-of-sertoli-cells-hormones-in-2-year-old-prepubertal-cryptorchid-boys-a-cross-sectional-study
#11
S M Hamdi, T Almont, P Galinier, R Mieusset, P Thonneau
In cryptorchid boys, failures in germ cell development have been clearly established. Some studies reported some abnormalities in Sertoli cells morphology but the results regarding their endocrine secretion remain controversial. To compare testicular hormone levels in young boys with and without cryptorchidism, we performed a cross-sectional hospital-based study. From surgery appointment records, we identified a case group of boys with unilateral or bilateral cryptorchidism and a control group undergoing dental care, minor osteoarticular or dermal surgery...
May 23, 2017: Andrology
https://www.readbyqxmd.com/read/28324034/anti-m%C3%A3-llerian-hormone-and-ovarian-morphology-in-women-with-isolated-hypogonadotropic-hypogonadism-kallmann-syndrome-effects-of-recombinant-human-fsh
#12
Hélène Bry-Gauillard, Florence Larrat-Ledoux, Jean-Marc Levaillant, Nathalie Massin, Luigi Maione, Isabelle Beau, Nadine Binart, Philippe Chanson, Sylvie Brailly-Tabard, Janet E Hall, Jacques Young
Context: Isolated hypogonadotropic hypogonadism (IHH), characterized by gonadotropin deficiency and absent puberty, is very rare in women. IHH prevents pubertal ovarian stimulation, but anti-Müllerian hormone (AMH) and antral follicle count (AFC) have not been studied. Objectives: (1) To compare, in IHH vs controls, AMH, ovarian volume (OV), and AFC. (2) To compare, in IHH, ovarian responses to recombinant human follicle-stimulating hormone (rhFSH) and rhFSH plus recombinant human luteinizing hormone (rhLH)...
April 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28261833/diagnostic-utility-of-testosterone-priming-prior-to-dynamic-tests-to-differentiate-constitutional-delay-in-puberty-from-isolated-hypogonadotropic-hypogonadism
#13
Suja P Sukumar, Anil Bhansali, Naresh Sachdeva, Chirag Kamal Ahuja, Ujjwal Gorsi, Kush Dev Singh Jarial, Rama Walia
CONTEXT: Differentiation between constitutional delay in puberty (CDP) and isolated hypogonadotropic hypogonadism (IHH) during adolescence is a great clinical challenge, and the available diagnostic tests are of limited value. OBJECTIVE: To study the effect of withdrawal of short-term, low-dose testosterone therapy (testosterone priming) on the discriminatory power of dynamic tests for hypothalamo-pituitary-testicular axis to differentiate CDP from IHH. DESIGN: A prospective study (n = 30) consisting of 20 boys with delayed puberty (group A) and 10 patients with IHH (group B)...
May 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28161677/serum-anti-m%C3%A3-llerian-hormone-and-inhibin-b-as-potential-markers-for-progressive-central-precocious-puberty-in-girls
#14
Ting Chen, Haiying Wu, Rongrong Xie, Fengyun Wang, Xiuli Chen, Hui Sun, Linqi Chen
STUDY OBJECTIVE: To investigate the potential of serum anti-Müllerian hormone (AMH) and inhibin B (INHB) levels as markers for pubertal progression rate in girls with central precocious puberty (CPP). DESIGN, SETTING, PARTICIPANTS, INTERVENTIONS, AND MAIN OUTCOME MEASURES: A total of 148 girls were enrolled, including 65 girls with premature thelarche and 83 girls with CPP, grouped on the basis of the results of gonadotropin-releasing hormone stimulation tests. Girls with CPP underwent a 6-month follow-up, and were further divided into 2 subgroups: the progressive CPP (P-CPP) group (n = 55) and the slowly P-CPP (SP-CPP) group (n = 28)...
June 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/27927844/congenital-hypogonadotropic-hypogonadism-functional-hypogonadotropism-or-constitutional-delay-of-growth-and-puberty-an-analysis-of-a-large-patient-series-from-a-single-tertiary-center
#15
Tero Varimo, Päivi J Miettinen, Johanna Känsäkoski, Taneli Raivio, Matti Hero
STUDY QUESTION: What diagnoses underlie delayed puberty (DP) and predict its outcome? SUMMARY ANSWER: A multitude of different diagnoses underlie DP, and in boys a history of cryptorchidism, small testicular size and slow growth velocity (GV) predict its clinical course. WHAT IS KNOWN ALREADY: DP is caused by a variety of underlying etiologies. Hormonal markers can be used in the differential diagnosis of DP but none of them have shown complete diagnostic accuracy...
January 2017: Human Reproduction
https://www.readbyqxmd.com/read/27834317/is-age-at-puberty-associated-with-semen-quality-and-reproductive-hormones-in-young-adult-life
#16
Lea Lb Lauridsen, Linn H Arendt, Henrik Støvring, Jørn Olsen, Cecilia H Ramlau-Hansen
The evidence is scarce on the association between age at puberty and semen quality. A cohort of 320 Danish men aged 18-21 years enrolled in the "Healthy Habits for Two" birth cohort provided self-reported data on pubertal indicators and delivered semen and blood samples. The results indicated an association between older age at pubertal development and lower semen quality and altered reproductive hormones concentrations as measured in young adult life. Men who had their first nocturnal emission, start of pubic hair growth and first voice break episode when older than 15 years had 37...
November 2017: Asian Journal of Andrology
https://www.readbyqxmd.com/read/27702598/juvenile-granulosa-cell-tumor-of-the-ovary-a-clinicopathologic-study
#17
Hao Wu, Stephanie A Pangas, Karen W Eldin, Kalyani R Patel, John Hicks, Jennifer E Dietrich, Rajkumar Venkatramani
STUDY OBJECTIVE: To report on the clinical characteristics and outcome of pediatric patients with juvenile granulosa cell tumor (JGCT) of the ovary. DESIGN, SETTING, PARTICIPANTS, INTERVENTIONS, AND MAIN OUTCOME MEASURES: Patients with histopathologically confirmed ovarian JGCT diagnosed between 1990 and 2016 were identified. Data on the clinical presentation, surgical management, oncologic management, laboratory investigation, follow-up, and outcome were collected. Tumors were staged according to the International Federation of Gynecology and Obstetrics criteria...
February 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/27321556/prospective-study-of-histological-and-endocrine-parameters-of-gonadal-function-in-boys-with-cryptorchidism
#18
MULTICENTER STUDY
Gilvydas Verkauskas, Dalius Malcius, Audrone Eidukaite, Juozas Vilimas, Darius Dasevicius, Vytautas Bilius, Faruk Hadziselimovic
INTRODUCTION: A transient increase in gonadotropins and testosterone during mini-puberty causes gonocytes to differentiate into Ad spermatogonia, which establish male germ cell memory and male-specific DNA methylation pathways. Over half of patients with unilateral cryptorchidism and the majority of patients with bilateral cryptorchidism display an abnormal spermiogram, which indicates that unilateral cryptorchidism is a bilateral disease; therefore, it represents a serious andrological problem...
August 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/27025240/circulating-makorin-ring-finger-protein-3-levels-decline-in-boys-before-the-clinical-onset-of-puberty
#19
RANDOMIZED CONTROLLED TRIAL
Tero Varimo, Leo Dunkel, Kirsi Vaaralahti, Päivi J Miettinen, Matti Hero, Taneli Raivio
OBJECTIVE: Makorin ring finger protein 3 (MKRN3) gene restrains the hypothalamic-pituitary-gonadal axis. In girls, peripheral levels of MKRN3 decline prior to the onset of puberty. We described longitudinal changes in serum MKRN3 levels in boys before and during puberty and assessed the effect of inhibition of estrogen biosynthesis on MKRN3 levels. DESIGN: Longitudinal serum samples from a double-blind, randomized controlled study in 30 boys (age range: 9.1-14.2years) with idiopathic short stature who received placebo (Pl; n=14) or aromatase inhibitor letrozole (Lz; 2...
June 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/26952785/triple-x-syndrome-and-puberty-%C3%A2-focus%C3%A2-on-the-hypothalamus-hypophysis-gonad-axis
#20
Stefano Stagi, Mariarosaria di Tommaso, Perla Scalini, Elisabetta Lapi, Stefania Losi, Erica Bencini, Fabrizio Masoni, Laura Dosa, Sabrina Becciani, Maurizio de Martino
OBJECTIVE: To evaluate the hypothalamus-hypophysis-gonad axis in a cohort of children and adolescents with nonmosaic triple X syndrome. DESIGN: Cross-sectional study with retrospective analysis. SETTING: University pediatric hospital. PATIENT(S): Fifteen prepubertal subjects (median age 9.0 years, range 6.9-11.9 years) with nonmosaic triple X syndrome and age- and pubertal-matched control group (30 girls, median age 9...
June 2016: Fertility and Sterility
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