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https://www.readbyqxmd.com/read/30335236/a-pathogenic-homozygous-variant-of-the-bbs10-gene-in-a-patient-with-bardet-biedl-syndrome
#1
Luz Yaqueline Ladino, Johanna Galvis, Diana Yasnó, Adriana Ramírez, Orietta Ivonne Beltrán
The Bardet-Biedl syndrome is an autosomal recessive hereditary disorder with vast locus heterogeneity that belongs to the so-called ciliopathies, whose proteins are localized in the primary cilia and present functional deficiency. The multisystemic features of the disease include ocular, renal, cognitive, skeletal, as well as gonadal involvement and obesity, among others, with high inter- and intrafamilial variability. We describe the clinical case of an adolescent male patient with Bardet-Biedl syndrome, including the approach, the results from a 22-gene sequencing panel, and the analysis of updated scientific literature...
September 1, 2018: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/30317195/case-of-newly-diagnosed-bilateral-anorchia-in-a-42-year-old-male-patient
#2
Francisco Sousa Santos, Cátia Ferrinho, Clotilde Limbert, Carlos Vasconcelos
A 42-year-old African man presented with hypogonadic phenotypical features, including gynoid body distribution, gynaecomastia, absent facial and truncal hair and micropenis. He denied ever experiencing development of male secondary sex characteristics. Endocrine testing revealed hypergonadotropic hypogonadism and undetectable AMH. Human chorionic gonadotropin (hCG) stimulation test failed to increase testosterone levels. Peripheral blood karyotype was 46, XY. Clinical examination and abdominal/pelvic/scrotal ultrasound and MRI failed to identify any testicular structures/remnants...
October 12, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/30240710/autopsy-findings-of-ectodermal-dysplasia-and-sex-development-disorder-in-a-fetus-with-19q12q13-microdeletion
#3
Nicolas Mottet, Christelle Cabrol, Jean-Patrick Metz, Claire Toubin, Francine Arbez-Gindre, Mylène Valduga, Kenneth McElreavey, Didier Riethmuller, Lionel Van Maldergem, Juliette Piard
A 5,6 Mb de novo 19q12-q13.12 interstitial deletion was diagnosed prenatally by array-comparative genomic hybridization in a 26 weeks male fetus presenting with intra-uterine growth retardation, left clubfoot, atypical genitalia and dysmorphic features. Autopsic examination following termination of pregnancy identified a severe disorder of sex development (DSD) including hypospadias, micropenis, bifid scrotum and right cryptorchidism associated with signs of ectodermal dysplasia: scalp hypopigmentation, thick and frizzy hair, absence of eyelashes, poorly developed nails and a thin skin with prominent superficial veins...
September 18, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/30224237/incidence-and-diagnoses-of-disorders-of-sex-development-in-proximal-hypospadias
#4
Yuenshan Sammi Wong, Yuk Him Tam, Kristine Kit Yi Pang, Ho Chung Yau
BACKGROUND: Evidence-based guidelines on evaluation of boys with proximal hypospadias for the possibility of a disorder of sex development (DSD) have yet to be developed. We aimed to investigate the incidence and diagnoses of DSD in patients with proximal hypospadias. METHODS: We retrospectively reviewed the records of consecutive boys who underwent proximal hypospadias repairs from 2006 to Sept 2017. Data collected included scrotal anomaly, testes position/palpability, micropenis, DSD investigations, and surgical techniques...
September 1, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/30075934/measurement-of-stretched-penile-length-in-prepubertal-boys-in-egypt
#5
T S El-Ammawi, R T Abdel-Aziz, W Medhat, G A Nasif, S G Abdel-Rahman
BACKGROUND: Early diagnosis of penile size abnormalities is both medically and psychologically important. It is important in the diagnosis of penile problems. Therefore, a current established reference for penile size in newborns and children is vital for diagnosis and early management of micropenis. OBJECTIVES: The aim of the present study was to establish reference values for penile length in newborn and prepubertal boys at different ages in Minia Governorate, Egypt...
July 21, 2018: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29980223/semilobar-holoprosencephaly-with-cebocephaly-associated-with-maternal-early-onset-preeclampsia-a-case-report
#6
Ahmed Amdihun Essa, Lakachew Asrade Feleke, Dawed Muhammed Ahmed
BACKGROUND: The term holoprosencephaly was proposed by DeMyer and Zeman. It is a developmental defect of the embryonic forebrain with heterogeneous etiology including genetic and environmental factors. It is commonly associated with midfacial defects and has a spectrum of presentations. There are four types: alobar, semilobar, lobar, and variant. Holoprosencephaly is relatively rare. The overall prevalence in a multicenter study was 1 in 13,000 to 18,000 live births. However, the presentation of holoprosencephaly with cebocephaly, micropenis, agenesis of middle phalanges of the fifth finger, and postaxial polydactyly in association with early onset preeclampsia is extremely rare...
July 7, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29967081/case-2-3-month-old-boy-with-micropenis
#7
Mustafa Tosur, Lefkothea P Karaviti
No abstract text is available yet for this article.
July 2018: Pediatrics in Review
https://www.readbyqxmd.com/read/29959177/growth-hormone-deficiency-causing-micropenis-lessons-learned-from-a-well-adjusted-adult
#8
Peter A Lee, Tom Mazur, Christopher P Houk, Robert M Blizzard
This report of a 46,XY patient born with a micropenis consistent with etiology from isolated congenital growth hormone deficiency is used to (1) raise the question regarding what degree testicular testosterone exposure to the central nervous system during fetal life and early infancy has on the development of male gender identity, regardless of gender of rearing; (2) suggest the obligatory nature of timely full disclosure of medical history; (3) emphasize that virtually all 46,XY infants with functional testes and a micropenis should be initially boys except some with partial androgen insensitivity syndrome; and (4) highlight the sustaining value of a positive long-term relationship with a trusted physician (R...
July 2018: Pediatrics
https://www.readbyqxmd.com/read/29958641/description-of-mutation-spectrum-and-polymorphism-of-wilms-tumor-1-wt1-gene-in-hypospadias-patients-in-the-indonesian-population
#9
Rizki Diposarosa, Kurniawan O Pamungkas, Yunia Sribudiani, Herry Herman, Lita P Suciati, Nurul S Rahayu, Sjarif H Effendy
INTRODUCTION: Hypospadias is one of the most common congenital anomalies of the penis. Previous studies reported mutation of the Wilms' tumor 1 (WT1) gene as a cause of hypospadias. The aim of this study is to describe the WT1 mutation spectrum and polymorphism in hypospadias patients in Indonesia. MATERIAL AND METHODS: DNA was isolated from 74 hypospadias patients at the Division of Pediatric Surgery, Department of Surgery Hasan Sadikin Hospital. All exons in the WT1 gene were amplified by a PCR method, followed by Sanger sequencing...
June 2018: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29937883/abnormalities-of-the-external-genitalia-and-groins-among-primary-school-boys-in-bida-nigeria
#10
Adedeji O Adekanye, Samuel A Adefemi, Kayode A Onawola, John A James, Ibrahim T Adeleke, Mark Francis, Ezekiel U Sheshi, Moses E Atakere, Abdullahi D Jibril
Background: Abnormalities of the male external genitalia and groin, a set of lesions which may be congenital or acquired, are rather obscured to many kids and their parents and Nigerian health care system has no formal program to detect them. Objectives: To identify and determine the prevalence of abnormalities of external genitalia and groin among primary school boys in Bida, Nigeria. Methods: This was a cross-sectional study of primary school male pupils in Bida...
December 2017: African Health Sciences
https://www.readbyqxmd.com/read/29929047/isolated-hypospadias-the-impact-of-prenatal-exposure-to-pesticides-as-determined-by-meconium-analysis
#11
Elodie Haraux, Pierre Tourneux, Christelle Kouakam, Erwan Stephan-Blanchard, Bernard Boudailliez, Andre Leke, Celine Klein, Karen Chardon
Although endocrine-disrupting chemicals (EDCs, including pesticides) are thought to increase the risk of hypospadias, no compounds have been formally identified in this context. Human studies may now be possible via the assessment of meconium as a marker of chronic prenatal exposure. The objective of the present study was to determine whether or not prenatal exposure to pesticides (as detected in meconium) constitutes a risk factor for isolated hypospadias. In a case-control study performed between 2011 and 2014 in northern France, male newborns with isolated hypospadias (n = 25) were matched at birth with controls (n = 58)...
October 2018: Environment International
https://www.readbyqxmd.com/read/29850346/same-phenotype-in-children-with-growth-hormone-deficiency-and-resistance
#12
Irene Ioimo, Carmen Guarracino, Cristina Meazza, Horacio M Domené, Mauro Bozzola
By definition, about 2.5% of children show a short stature due to several causes. Two clinical conditions are characterized by serum IGF-I low levels, idiopathic GH deficiency (IGHD), and GH insensitivity (GHI), and the phenotypic appearance of these patients may be very similar. We studied two children with short stature and similar phenotypes. The first case showed frontal bossing, doll face, acromicria, and truncal obesity, with a GH peak <0.05 ng/ml after stimuli and undetectable serum IGF-I levels...
2018: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29780352/the-nomogram-of-penile-length-and-circumference-in-iranian-term-and-preterm-neonates
#13
Fahimeh Soheilipour, Farzaneh Rohani, Elham Hashemi Dehkordi, Roya Isa Tafreshi, Parisa Mohagheghi, Seyed-Mohammadsalar Zaheriani, Fatemeh Jesmi, Hamid Salehiniya
Background and objectives: The normal length of penis in preterm and term neonates is different among different nations, and is affected by various factors. The present study aimed to determine stretched penile length (SPL) values and cutoff level of micropenis in term and preterm Iranian neonates, for the first time. Materials and methods: All male neonates born in two general hospitals of Tehran (Akbarabadi, and Rasoul hospitals), center of Iran, with gestational age of 28-42 weeks were included and their SPL and penile circumference (PC) were examined on the first 3 days after birth by the same physician...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29777911/deficiency-in-gnrh-receptor-trafficking-due-to-a-novel-homozygous-mutation-causes-idiopathic-hypogonadotropic-hypogonadism-in-three-prepubertal-siblings
#14
Rui Zhang, Siyuan Linpeng, Zhuo Li, Yingxi Cao, Hu Tan, Desheng Liang, Lingqian Wu
Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by low levels of gonadotropins and delayed or absent sexual development. Most of the patients are diagnosed in late adolescence or early adulthood. Determining the diagnosis of IHH in prepubertal patients can be challenging. Making a timely, correct diagnosis has important clinical implications. Here we aimed to identify the genetic cause of IHH in three prepubertal siblings from a Chinese Han family and give appropriate treatment advice. Using whole exome sequencing (WES), we identified a novel homozygous GNRHR mutation (NM_000406; c...
August 30, 2018: Gene
https://www.readbyqxmd.com/read/29714466/the-relation-between-isolated-micropenis-in-childhood-with-cag-and-ggn-repeat-polymorphisms-in-the-androgen-receptor-gene
#15
Esra Tuğ, Sezen Güntekin Ergün, Mehmet Ali Ergün, Fatma Nihal Dilek, Emriye Ferda Perçin
Background/aim: In micropenis cases accompanied by external genital abnormalities such as hypospadias and cryptorchidism, infertility and spermatogenic failures have been reported to correlate with androgen receptor ( AR ) gene CAG and GGN repeat polymorphisms. While there is one study on isolated micropenis and CAG repeats, no study related to GGN repeats has been reported. We investigated the relation between CAG and GGN repeats in the AR gene with development of penis length in boys with isolated micropenis...
April 30, 2018: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/29692900/a-case-of-kallmann-syndrome-associated-with-a-non-functional-pituitary-microadenoma
#16
Taieb Ach, Hela Marmouch, Dorra Elguiche, Asma Achour, Hajer Marzouk, Hanene Sayadi, Ines Khochtali, Mondher Golli
Kallmann syndrome (KS) is a form of hypogonadotropic hypogonadism in combination with a defect in sense of smell, due to abnormal migration of gonadotropin-releasing hormone-producing neurons. We report a case of a 17-year-old Tunisian male who presented with eunuchoid body proportions, absence of facial, axillary and pubic hair, micropenis and surgically corrected cryptorchidism. Associated findings included anosmia. Karyotype was 46XY and hormonal measurement hypogonadotropic hypogonadism. MRI of the brain showed bilateral agenesis of the olfactory bulbs and 3...
2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29610615/surgical-management-of-facial-features-of-robinow-syndrome-a-case-report
#17
Aida M Mossaad, Moustapha A Abdelrahman, Mostafa A Ibrahim, Hatem H Al Ahmady
BACKGROUND: Robinow Syndrome is an extremely rare genetic disorder characterised by abnormalities in head, face and external genitalia. This disorder exists in dominant pattern with moderate symptoms and recessive pattern with more physical and skeletal abnormalities. It was first introduced by Menihard Robinow in 1969. It was related to chromosome 9q22 ROR2 gene related to bone and cartilage growth aspects. CASE PRESENTATION: A 17-year-old Egyptian male presented to National Research Centre Orodental genetics Clinic with typical features of short stature and facial dysmorphism weighted 50 Kg and measured 150 cm height complaining of facial dis figurement...
March 15, 2018: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29506479/a-case-of-an-infant-suspected-as-image-syndrome-who-were-finally-diagnosed-with-mirage-syndrome-by-targeted-mendelian-exome-sequencing
#18
Yoon-Myung Kim, Go Hun Seo, Gu-Hwan Kim, Jung Min Ko, Jin-Ho Choi, Han-Wook Yoo
BACKGROUND: Adrenal hypoplasia is a rare congenital disorder, which can be classified into a non-syndromic form, without extra-adrenal features, and a syndromic form, with such features. Despite biochemical and molecular genetic evaluation, etiologic diagnosis cannot be performed in many patients with adrenal hypoplasia. CASE PRESENTATION: The patient in this case was a boy born at 31 weeks of gestation with a weight of 882 g (< 3rd percentile) to non-consanguineous parents...
March 5, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29420188/human-3beta-hydroxysteroid-dehydrogenase-deficiency-associated-with-normal-spermatic-numeration-despite-a-severe-enzyme-deficit
#19
Bruno Donadille, Muriel Houang, Irène 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. The estimated prevalence is less than 1/1,000,000 at birth. It leads to steroidogenesis impairment in both adrenals and gonads. Few data are available concerning adult testicular function in such patients. We had the opportunity to study gonadal axis and testicular function in a 46,XY adult patient, carrying a HSD3B2 mutation. He presented at birth a neonatal salt-wasting syndrome...
March 2018: Endocrine Connections
https://www.readbyqxmd.com/read/29362687/false-low-risk-single-nucleotide-polymorphism-based-noninvasive-prenatal-screening-in-pentasomy-49-xxxxy
#20
Manesha Putra, Melissa A Hicks, Jacques S Abramowicz
Introduction  Pentasomy 49,XXXXY is a sex chromosome anomaly difficult to be diagnosed prenatally. We describe a patient of pentasomy 49,XXXXY with false low-risk results using a noninvasive prenatal screening (NIPS). A 30-year-old G1P0 woman presented at 33 6/7 weeks, secondary to sonographic fetal anomalies. She had low-risk NIPS at 13 6/7 weeks. Anatomy survey showed bilateral clubfeet, clinodactyly of the left fifth digit, micropenis, and echogenic bowel. Cytogenetics analysis revealed pentasomy 49,XXXXY syndrome...
January 2018: American Journal of Perinatology Reports
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