Adolescent Gynecomastia due to Minimal Androgen Resistance Syndrome: A Case Report and Literature Review

2021 ◽  
pp. 1-6
Author(s):  
Aureliano Fiorini ◽  
Margherita Sepich ◽  
Margherita Pontrelli ◽  
Giorgio Sangriso ◽  
Mirna Cosci o Di Coscio ◽  
...  
Keyword(s):  
Literature Review ◽  
Genetic Variant ◽  
Phenotypic Variability ◽  
Pubertal Development ◽  
Androgen Insensitivity Syndrome ◽  
Normal Body Mass Index ◽  
Laboratory Findings ◽  
Reproductive Axis ◽  
Androgen Resistance ◽  
Exon 1

A 14-year-old boy with a 46,XY karyotype and persistent breast-3-stage gynecomastia is reported. The reproductive axis was investigated by standard laboratory methods and the androgen receptor (AR) gene was sequenced. Also, a literature review of phenotypes associated with the AR genetic variant p.Pro392Ser was performed. The boy presented with height in the upper normal range (+1.9 SDS) and normal body mass index (−0,3 SDS); pubertal development was PH5/G4 (mean testicular volume 15 mL; 0 SDS). Laboratory findings were normal for age and sex, except aromatization index (0.09; reference range 0.03–0.07). Analysis of the AR gene showed the single nucleotide variant c.1174C>T (p.Pro392Ser) in exon 1, leading to the diagnosis of minimal androgen insensitivity syndrome (AIS). This genetic variant is reported in other 8 patients with AIS and is associated with variable clinical phenotypes ranging from complete to partial and minimal AIS. To the best of our knowledge, this is the first adolescent in whom the p.Pro392Ser mutation is associated with isolated persistent gynecomastia. The underlying reason of phenotypic variability due to this AR mutation remains unknown. Persistent gynecomastia due to minimal AIS has been reported in few additional males with variable AR mutations. Since fertility troubles may occur in adult men with minimal AIS, early diagnosis can allow optimizing the clinical management.

Prenatal prediction of androgen insensitivity syndrome using exon 1 polymorphism of the androgen receptor gene

1992 ◽  
Vol 43 (7) ◽  
pp. 659-663 ◽  
Author(s):  
Jean Marc Lobaccaro ◽  
Serge Lumbroso ◽  
Françoise Carré Pigeon ◽  
Jean-Louis Chaussain ◽  
Jean-Edmond Toublanc ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Receptor Gene ◽  
Androgen Receptor Gene ◽  
Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity ◽  
Exon 1

Novel combined insulin-like 3 variations of a single nucleotide in cryptorchidism

2019 ◽  
Vol 32 (9) ◽  
pp. 987-994 ◽  
Author(s):  
Xenophon Sinopidis ◽  
Roza Mourelatou ◽  
Eirini Kostopoulou ◽  
Alexia Karvela ◽  
Andrea-Paola Rojas-Gil ◽  
...  
Keyword(s):  
Phenotypic Variability ◽  
Testicular Descent ◽  
Sequencing Analysis ◽  
Single Nucleotide ◽  
Allelic Variants ◽  
Exon 2 ◽  
Pcr Products ◽  
Exon 1 ◽  
Male Patients ◽  
Allelic Variations

Abstract Background Insulin-like 3 hormone (INSL3) is involved in the process of testicular descent, and has been thoroughly studied in cryptorchidism. However, INSL3 allelic variations found in the human genome were heterozygous and only a few of them were found exclusively in patients with cryptorchidism. Under this perspective, we aimed to study the presence of INSL3 allelic variations in a cohort of patients with cryptorchidism and to estimate their potential consequences. Methods Blood samples were collected from 46 male patients with non-syndromic cryptorchidism and from 43 age-matched controls. DNA extraction and polymerase chain reaction (PCR) were performed for exons 1 and 2 of the INSL3 gene in all subjects. Sequencing analysis was carried out on the PCR products. All data were grouped according to testicular location. Results Seven variations of a single nucleotide (SNVs) were identified both in patients with cryptorchidism and in controls: rs2286663 (c.27G > A), rs1047233 (c.126A > G) and rs6523 (c.178A > G) at exon 1, rs74531687 (c.191-30C > T) at the intron, rs121912556 (c.305G > A) at exon 2 and rs17750642 (c.*101C > A) and rs1003887 (c.*263G > A) at the untranslated region (UTR). The allelic variants rs74531687 and rs121912556 were found for the first time in the Greek population. The novel homozygotic combination of the three allelic variants rs1047233-rs6523-rs1003887 seemed to present a stronger correlation with more severe forms of cryptorchidism. Conclusions The combination of specific INSL3 SNVs rather than the existence of each one of them alone may offer a new insight into the involvement of allelic variants in phenotypic variability and severity.

mRNA analysis of genes responsible for idiopathic hypogonadotrophic hypogonadism

2016 ◽  
Vol 62 (5) ◽  
pp. 40-41
Author(s):  
Anna S. Loktionova ◽  
Natela G Eneva ◽  
Karina A. Khusniyarova ◽  
Lidia N Nefedova ◽  
Alexander I. Kim ◽  
...  
Keyword(s):  
Mrna Expression ◽  
Peripheral Blood ◽  
Expression Profiles ◽  
Pubertal Development ◽  
Hypogonadotropic Hypogonadism ◽  
Body Weight Loss ◽  
Dna Lesions ◽  
Control Group ◽  
Reproductive Axis ◽  
Development Methods

Background. Hypogonadotropic hypogonadism (HH) is a disorder characterized by delayed or absent pubertal development due to pathology of the hypothalamic-pituitary-gonadal axis. HH may be both congenital (Kallmann’s syndrome) and sporadic. Congenital or isolated HH is divided into with anosmia/hyposmia (KS) and with normal olfaction (nIHH). Nowadays several tens of genes involved in the functioning of the reproductive axis are known. However DNA lesions can be found just in 5-15% of such cases of HH.Aim. So we decided to measure mRNA expression of several genes which can be found in leukocytes of peripheral blood - namely GNRHR and GNRH1 (are necessary for adequate biological effect of GnRH); PROK2 and CHD7 (are responsible for the migration of GnRH neurons), WDR11 and DUSP6 (are involved in normal sexual development).Methods. A quantitative determination of mRNA expression of these genes were comlpeted in the fresh peripheral blood sample by PCR in real time.Results. Examined patients: 9 women with hypogonadotropic hypogonadism (age from 18 to 28 y.o.); duration of the disease from 2 to 15 years; 3 of them – amenorrhea I and 6 – amenorrhea II. Reasons of amenorrhea II were: stress, excessive exercises, rapid body weight loss, past use of oral contraceptives. The control group: 19 healthy women; age from 19 to 37 y.o.; with regular ovalutory menstrual cycle, some of them have children. mRNA expression of examined genes differed from normal patterns in each case of hypogonadotropic hypogonadism. Changes in GNRHR, GNRH1 and DUSP6 mRNA expression were found in most of cases. However variations of mRNA expression were multidirectional in each case and there was no similarity among expression profiles of patients according to amenorrhea type or anamnestic factors.Conclusions. According to our preliminary results, in women with hypogonadotropic hypogonadism the functional activity damage of “reproductive-responsible” genes could be found in each case. Probably mRNA expression measuring could be a perspective method for proving hypothalamo-pituitary level of reproductive disorders and may help to determine which genes should be tested for DNA impairment.

Pubertal development and testicular function in the male growth hormone-deficient rat

1990 ◽  
Vol 126 (2) ◽  
pp. 193-201 ◽  
Author(s):  
J. M. S. Bartlett ◽  
H. M. Charlton ◽  
I. C. A. F. Robinson ◽  
E. Nieschlag
Keyword(s):  
Gh Deficiency ◽  
Pubertal Development ◽  
Adult Life ◽  
Testicular Development ◽  
Mouse Mutants ◽  
Reproductive Axis ◽  
Snell Dwarf ◽  
Testicular Size ◽  
Sperm Output ◽  
Dwarf Mice

ABSTRACT The pubertal development of a novel GH-deficient mutant, the dwarf rat, has been evaluated. The establishment of normal spermatogenic function within small testes suggests that GH plays no role in spermatogenic function during puberty and adult life. However, a reduction in testicular size may reflect a reduced Sertoli cell population, suggesting that GH may be of importance in prepubertal testicular development. Furthermore, marked differences between the homozygous dwarf rat and homozygous GH-deficient mouse mutants (e.g. Snell, Ames, pygmy and little mutants) have been demonstrated. It would appear that the GH deficiency in the rat mutant is far more specific for GH than those hitherto described in the mouse. In contrast to Snell dwarf mice mutants, pituitary and serum concentrations of FSH and LH are normal throughout pubertal development in the dwarf rat. Both spermatogenic function and seminal vesicle function develop normally, whilst in Snell dwarf mice spermatogenic function develops late in life and seminal vesicles remain infantile. Serum and testicular concentrations of androgen are also normal in dwarf rats. Homozygous dwarf rats have been shown to be fertile in previous studies; however, our observations suggest that despite spermatogenesis being qualitatively and quantitatively normal when assessed histologically, reduced testicular size seen in dwarf rats would lead to a reduced daily sperm output in these animals. The dwarf rat represents a mutant in which the consequences of the selective depletion of GH may be studied on various endocrine systems. The reproductive axis appears to be only partially affected, at an early age, by GH deficiency. Journal of Endocrinology (1990) 126, 193–201

scholarly journals VHLFrameshift Mutation as Target of Nonsense-Mediated mRNA Decay inDrosophila melanogasterand Human HEK293 Cell Line

2009 ◽  
Vol 2009 ◽  
pp. 1-9 ◽  
Author(s):  
Lucia Micale ◽  
Lucia Anna Muscarella ◽  
Marco Marzulli ◽  
Bartolomeo Augello ◽  
Patrizia Tritto ◽  
...  
Keyword(s):  
Mrna Decay ◽  
Phenotypic Variability ◽  
Familial Cancer ◽  
Cancer Syndrome ◽  
Hek 293 ◽  
Von Hippel Lindau ◽  
Premature Termination Codons ◽  
Exon 1 ◽  
Nonsense Mediated Mrna Decay ◽  
Human Mutation

There are many well-studied examples of human phenotypes resulting from nonsense or frameshift mutations that are modulated by Nonsense-Mediated mRNA Decay (NMD), a process that typically degrades transcripts containing premature termination codons (PTCs) in order to prevent translation of unnecessary or aberrant transcripts. Different types of germline mutations in theVHLgene cause the von Hippel-Lindau disease, a dominantly inherited familial cancer syndrome with a marked phenotypic variability and age-dependent penetrance. By generating theDrosophilaUAS:Upf1D45Bline we showed the possible involvement of NMD mechanism in the modulation of the c.172delG frameshift mutation located in the exon 1 ofVhlgene. Further, by Quantitative Real-time PCR (QPCR) we demonstrated that the corresponding c.163delG human mutation is targeted by NMD in human HEK 293 cells. The UAS:Upf1D45Bline represents a useful system to identify novel substrates of NMD pathway inDrosophila melanogaster. Finally, we suggest the possible role of NMD on the regulation ofVHLmutations.

scholarly journals Narcolepsy With or Without Cataplexy In The Pediatric Population: A Systematic Review

2018 ◽  
pp. 1-13
Author(s):  
Racha Nazir ◽  
David S Bennett ◽  
Karim Sedky
Keyword(s):  
Systematic Review ◽  
Literature Review ◽  
Symptom Onset ◽  
English Language ◽  
Pediatric Population ◽  
Lag Time ◽  
Initial Symptom ◽  
Symptom Presentation ◽  
Laboratory Findings ◽  
Improved Outcome

Study Objectives: Narcolepsy diagnosis has been associated with a long lag time between the onset of the disorder and the diagnosis itself among patients with the disorder. This article reviews the childhood epidemiology of idiopathic narcolepsy, including its prevalence, subtypes, and disease progression. Methods: A literature review was conducted to include both published and unpublished data on pediatric narcolepsy. All English language articles were included through April, 2015. Results: Time from symptom onset to diagnosis for children is approximately three years. The prevalence of cataplexy appears to be lower in children compared to adults, suggesting a later onset of cataplexy. The presence of cataplexy, however, was unrelated to demographic factors and laboratory findings. Conclusion: There is a substantial lag-time between initial symptom presentation and diagnosis in children with narcolepsy. A less quintessential presentation of narcolepsy might occur in children relative to adults, making diagnosis more challenging. Continued improvements in narcolepsy education for both pediatricians and parents might facilitate earlier identification and diagnosis of the disease, thus leading to improved outcome.

scholarly journals MANAGEMENT OF BURNING MOUTH SYNDROME: A LITERATURE REVIEW

2019 ◽  
Vol 6 (1) ◽  
pp. 43
Author(s):  
I Nyoman Gede Juwita Putra ◽  
Riani Setiadhi
Keyword(s):  
Literature Review ◽  
Hormone Replacement ◽  
Burning Mouth Syndrome ◽  
Burning Sensation ◽  
Oral Lesions ◽  
Pharmacologic Treatment ◽  
Laboratory Findings ◽  
Physiological Basis ◽  
Topical Medication ◽  
Burning Mouth

Background: Burning mouth syndrome (BMS) is a chronic idiopathic oral dysaesthesia that presents as a burning sensation in the oral cavity usually without any specific oral lesions or laboratory findings. Burning sensations may appear on the buccal mucosa, hard and soft palate, tongue and lips. BMS appears to be more prevalent in postmenopausal women. The term menopause is often used for a condition in which the permanent cessation of the primary function of the ovaries in humans that occurs especially in middle-aged women. Available evidence suggested that BMS is a multifactorial disorder with physiological basis. Pathophysiology of BMS remains unclear. The etiopathogenesis in most patients who complain of burning sensations have interactions with several factors such as local, systemic, and/ or psychogenic factors. The aim of this literature review was to assess and evaluate the management of BMS comprehensively.Discussion: The therapy of BMS including hormone replacement therapy,systemically therapy, such as antidepressants, clonazepam and topical medication (clonidine and capsaicin) and reassurance as the stress management.Conclusion: Proper management of the BMS involves the combination of pharmacologic treatment and psychotherapy, as well as reassurance is an important thing

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