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https://www.readbyqxmd.com/read/28074248/pregnancy-associated-osteoporosis-a-case-control-study
#1
P Hadji, J Boekhoff, M Hahn, L Hellmeyer, O Hars, I Kyvernitakis
: The etiology and underlying mechanisms of pregnancy-associated osteoporosis (PAO) are still unknown, since no systematic analyses exist. Our results indicate that PAO is a heterogeneous, rare but severe disease including a substantial number of fractures with a significant delay from first symptom to diagnose. INTRODUCTION: Pregnancy-associated osteoporosis (PAO) is a rare but severe type of premenopausal osteoporosis. Most common symptom includes acute lower back pain due to vertebral fracture predominantly occurring in the last trimester of pregnancy or immediately postpartum...
January 10, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28065179/maternal-fish-oil-supplementation-during-lactation-is-associated-with-reduced-height-at-13-years-of-age-and-higher-blood-pressure-in-boys-only
#2
L Lauritzen, S E Eriksen, M F Hjorth, M S Nielsen, S F Olsen, K D Stark, K F Michaelsen, C T Damsgaard
Dietary long-chain n-3 PUFA (n-3 LCPUFA) in infancy may have long-term effects on lifestyle disease risk. The present follow-up study investigated whether maternal fish oil (FO) supplementation during lactation affected growth and blood pressure in adolescents and whether the effects differed between boys and girls. Mother-infant pairs (n 103) completed a randomised controlled trial with FO (1·5 g/d n-3 LCPUFA) or olive oil (OO) supplements during the first 4 months of lactation; forty-seven mother-infant pairs with high fish intake were followed-up for 4 months as the reference group...
January 9, 2017: British Journal of Nutrition
https://www.readbyqxmd.com/read/27997352/transdermal-testosterone-gel-for-induction-and-continuation-of-puberty-in-adolescent-boys-with-hepatic-dysfunction
#3
Maria F Contreras, Manish Raisingani, Kris Prasad, Bonita Franklin, Bina Shah
Treatment to induce puberty in boys is indicated in those who do not undergo spontaneous development at a normal age. Stimulating development of the secondary sex characteristics is possible using gradually increasing doses of testosterone esters (TEs) via intramuscular (IM) administration, which is the most widely used method of testosterone (T) supplementation. When TEs are administered as monthly injection, serum T levels exhibit large fluctuations with supraphysiologic levels seen immediately after the injection followed by a decrease into the low range...
January 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27993449/growth-and-final-height-of-children-with-gaucher-disease-a-15-year-follow-up-at-an-israeli-gaucher-center
#4
Espen Mendelsohn, Amos Meir, Aya Abrahamov, Deborah Elstein, Ari Zimran, Floris Levy-Khademi
BACKGROUND: It is held that enzyme replacement therapy (ERT) accelerates the growth rate in children with Gaucher disease, but its effect on final height has not been established with certainty. This study presents final heights of Gaucher patients followed up for 15years. METHODS: The study included 41 adults with non-neuronopathic Gaucher disease. The final height of the patients and age at puberty was compared to their mid-parental target height and to their siblings' heights...
December 9, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27990598/disorders-of-sex-development-dsd-not-only-babies-with-ambiguous-genitalia-a-practical-guide-for-surgeons
#5
Irene Kearsey, John M Hutson
INTRODUCTION AND METHODS: In this review, we describe the common clinical scenarios that may be present to a paediatric surgeon when a patient has a disorder of sex development (DSD). Our aim was to prepare surgeons so that they can respond with correct approaches to diagnose and manage the given situations. RESULTS: DSD present in three distinct clinical situations: in the neonate with some abnormality of the external genitalia; in the child undergoing surgical treatment for inguinal hernia or during open or laparoscopic orchidopexy or during hypospadias correction; and at or after puberty, which may be precocious or delayed or in an adolescent girl with masculinisation at puberty...
December 18, 2016: Pediatric Surgery International
https://www.readbyqxmd.com/read/27988506/plasma-concentrations-of-osteocalcin-are-associated-with-the-timing-of-pubertal-progress-in-boys
#6
Michael M Schündeln, Lena Bäder, Cordula Kiewert, Ralf Herrmann, Dagmar Führer, Berthold P Hauffa, Corinna Grasemann
BACKGROUND: Animal models have shown that the skeletal hormone osteocalcin stimulates testicular testosterone synthesis. To assess whether osteocalcin might be a useful marker to detect pubertal development disorders, we examined osteocalcin plasma concentrations in children and adolescents with and without disorders of pubertal development. METHODS: Osteocalcin concentrations were investigated in a total of 244 patients with endocrine disorders (122 males, mean age: 11...
December 19, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27982202/a-boy-with-prader-willi-syndrome-unmasking-precocious-puberty-during-growth-hormone-replacement-therapy
#7
Natasha G Ludwig, Rafael F Radaeli, Mariana M X Silva, Camila M Romero, Alexandre J F Carrilho, Danielle Bessa, Delanie B Macedo, Maria L Oliveira, Ana Claudia Latronico, Tânia L Mazzuco
Prader-Willi syndrome (PWS) is a genetic disorder frequently characterized by obesity, growth hormone deficiency, genital abnormalities, and hypogonadotropic hypogonadism. Incomplete or delayed pubertal development as well as premature adrenarche are usually found in PWS, whereas central precocious puberty (CPP) is very rare. This study aimed to report the clinical and biochemical follow-up of a PWS boy with CPP and to discuss the management of pubertal growth. By the age of 6, he had obesity, short stature, and many clinical criteria of PWS diagnosis, which was confirmed by DNA methylation test...
November 2016: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27976569/horseshoe-kidney-with-growth-retardation-don-t-forget-turner-syndrome
#8
Seçil Arslansoyu-Çamlar, Alper Soylu, Ayhan Abacı, Mehmet Atilla Türkmen, Ayfer Ülgenalp, Salih Kavukçu
Horseshoe kidney is the most frequent renal fusion anomaly that is usually asymptomatic and isolated malformation. However it can be seen with various syndromes and chromosomal anomalies. It was reported that 15-35% of Turner syndrome cases (TS) also display horseshoe kidney condition. TS is a chromosomal anomaly that had been characterized by delayed puberty, short body height and gonadal dysgenesis. In this report a five-year-old girl with horseshoe kidney, which has growth retardation during follow-up as only symptom of Turner syndrome...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27956181/latent-tgf-%C3%AE-binding-protein-1-deficiency-decreases-female-fertility
#9
Eileen Dietzel, Sabine Weiskirchen, Julia Floehr, Masahito Horiguchi, Vesna Todorovic, Daniel B Rifkin, Willi Jahnen-Dechent, Ralf Weiskirchen
The four latent transforming growth factor-β (TGF-β) binding proteins LTBP1-4 are extracellular matrix-associated proteins playing a critical role in the activation of TGF-β. The LTBP1 gene forms two major transcript variants (i.e. Ltbp1S and Ltbp1L) that are derived from different promoters. We have previously shown the importance of LTBP1 in vivo by using three different Ltbp1 null mice that were either deleted for exons 1 and 2 (Ltbp1L knockout), exon 5 (Ltbp1ΔEx5), or exon 8 (Ltbp1ΔEx8). While the Ltbp1L knockout and the Ltbp1ΔEx8 are perinatal lethal and die of cardiovascular abnormalities, the Ltbp1ΔEx5 is viable because it expresses a short form of Ltbp1L that lacks 55 amino acids (Δ55 variant of Ltbp1) formed by splicing out exon 5, while lacking the Ltbp1S variant...
January 22, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/27941181/hypogonadotropic-hypogonadism-in-a-female-patient-with-congenital-arhinia
#10
Janel Darcy Hunter, Melissa Ann Davis, Jennifer Rachel Law
The association of anosmia and congenital hypogonadotropic hypogonadism (CHH) is well described; however, congenital arhinia is a malformation associated with CHH that occurs much more rarely. There have been three reports of male patients with hypogonadism and congenital arhinia in the literature to date. We present the first case of arhinia associated with CHH in a female patient. A 14 years and 8 months female with congenital arhinia presented with delayed puberty. Physical examination and laboratory evaluation were consistent with hypogonadotropic hypogonadism...
January 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27940666/rasopathies-are-associated-with-delayed-puberty-are-they-associated-with-precocious-puberty-too
#11
Daniëlle C M van der Kaay, Bat-Sheva Levine, Daniel Doyle, Roberto Mendoza-Londono, Mark R Palmert
RASopathies, such as Noonan, Costello, and cardio-facio-cutaneous syndromes, are developmental disorders caused by mutations in rat sarcoma-mitogen-activated protein kinase pathway genes. Mutations that cause Noonan syndrome have been associated with delayed puberty. Here we report 4 patients with either Costello or cardio-facio-cutaneous syndrome who developed precocious puberty, suggesting complex regulation of the hypothalamic-pituitary-gonadal axis and the timing of puberty by the rat sarcoma-mitogen-activated protein kinase pathway...
December 2016: Pediatrics
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
#12
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/27919016/age-at-menarche-and-risk-of-developing-migraine-or-non-migraine-headaches-by-young-adulthood-a-prospective-cohort-study
#13
Nasim Maleki, Tobias Kurth, Alison E Field
IMPORTANCE: Migraine is a highly prevalent and disabling primary headache disorder that is two to three times more prevalent in young women. Among females, there is a steep increase in incidence from puberty to young adulthood, but the mechanisms for the increase are unknown. OBJECTIVE: To determine if age of menarche is a risk factor for developing migraine headache vs. non-migraine headache by young adulthood. DESIGN: A prospective cohort study, The Growing Up Today Study (GUTS), of adolescents who have been followed since 1996, when they were nine, to 14 years of age...
November 8, 2016: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/27889732/distal-renal-tubular-acidosis-associated-with-celiac-disease-and-thyroiditis
#14
Amit Kumar Satapathy, Sapna Mittal, Vandana Jain
BACKGROUND: Association of distal renal tubular acidosis (RTA) with autoimmune diseases is extremely rare in children. CASE CHARACTERISTICS: 12-year-old girl with distal RTA. Despite resolution of acidosis on bicarbonate, she continued to have poor growth and delayed puberty. Investigations revealed autoimmune thyroiditis and celiac disease. OUTCOME: Levothyroxine and gluten-free diet were initiated. Child gained height and weight and had onset of puberty after gluten withdrawal...
November 15, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/27875946/the-role-of-sexual-dysfunction-and-infertility-on-reproductive-health-in-diabetics-pathogenesis-evaluation-and-management
#15
Jason Gandhi, Gautam Dagur, Kelly Warren, Noel Smith, Sardar Ali Khan
BACKGROUND: Uncontrolled or long-term diabetes mellitus is conducive to vascular and oxidative stress disturbances that impede several physiological systems, which may in turn elicit psychological symptoms. OBJECTIVE: We assess the sexual and hormonal complications of diabetes mellitus that impair reproductive function in males and females. METHOD: A comprehensive MEDLINE® search was guided using key words relevant to diabetes mellitus and reproductive health...
November 22, 2016: Current Diabetes Reviews
https://www.readbyqxmd.com/read/27866050/boucher-neuh%C3%A3-user-syndrome-a-rare-cause-of-inherited-hypogonadotropic-hypogonadism-a-case-of-two-adult-siblings-with-two-novel-mutations-in-pnpla6
#16
Jakob H Langdahl, Anja L Frederiksen, Nina Nguyen, Klaus Brusgaard, Claus B Juhl
Boucher Neuhäuser Syndrome (BNS) is a rare clinical syndrome with autosomal recessive inheritance defined by early-onset ataxia, hypogonadism and chorioretinal dystrophy. We present two siblings diagnosed with BNS in late adult life identified with compound heterozygous state of two novel PNPLA6 mutations. Five healthy siblings were non- or heterozygous carriers of the mutations. The cases, which presented with ataxia in childhood and hypogonadotropic hypogonadism (HH), were diagnosed at age 17 and 25, respectively, when examined for delayed puberty...
November 16, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27827365/neural-correlates-of-working-memory-development-in-adolescent-primates
#17
Xin Zhou, Dantong Zhu, Xue-Lian Qi, Sihai Li, Samson G King, Emilio Salinas, Terrence R Stanford, Christos Constantinidis
Working memory ability matures after puberty, in parallel with structural changes in the prefrontal cortex, but little is known about how changes in prefrontal neuronal activity mediate this cognitive improvement in primates. To address this issue, we compare behavioural performance and neurophysiological activity in monkeys as they transitioned from puberty into adulthood. Here we report that monkeys perform working memory tasks reliably during puberty and show modest improvement in adulthood. The adult prefrontal cortex is characterized by increased activity during the delay period of the task but no change in the representation of stimuli...
November 9, 2016: Nature Communications
https://www.readbyqxmd.com/read/27816924/men-s-knowledge-of-their-own-fertility-a-population-based-survey-examining-the-awareness-of-factors-that-are-associated-with-male-infertility
#18
D Daumler, P Chan, K C Lo, J Takefman, P Zelkowitz
STUDY QUESTION: How knowledgeable are men about the medical, environmental and psychological factors that are associated with male infertility? SUMMARY ANSWER: Men, across most demographic groups, have limited knowledge of the various factors that are associated with male infertility. WHAT IS KNOWN ALREADY: Few surveys have focused on men's knowledge of their own fertility. Studies of both men and women have found that men are comparatively less knowledgeable about issues of fertility and reproductive health...
November 5, 2016: Human Reproduction
https://www.readbyqxmd.com/read/27809299/the-v-atpase-a2-isoform-controls-mammary-gland-development-through-notch-and-tgf-%C3%AE-signaling
#19
Sahithi Pamarthy, Liquin Mao, Gajendra K Katara, Sara Fleetwood, Arpita Kulshreshta, Alice Gilman-Sachs, Kenneth D Beaman
Among all tissues and organs, the mammary gland is unique because most of its development occurs in adulthood. Notch signaling has a major role in mammary gland development and has been implicated in breast cancer. The vacuolar-ATPase (V-ATPase) is a proton pump responsible for the regulation and control of pH in intracellular vesicles and the extracellular milieu. We have previously reported that a2V-ATPase (a2V), an isoform of 'a' subunit of V-ATPase, regulates processing of Notch receptor and alters Notch signaling in breast cancer...
November 3, 2016: Cell Death & Disease
https://www.readbyqxmd.com/read/27799946/anti-m%C3%A3-llerian-hormone-as-a-marker-of-steroid-and-gonadotropin-action-in-the-testis-of-children-and-adolescents-with-disorders-of-the-gonadal-axis
#20
REVIEW
Nadia Y Edelsztein, Romina P Grinspon, Helena F Schteingart, Rodolfo A Rey
In pediatric patients, basal testosterone and gonadotropin levels may be uninformative in the assessment of testicular function. Measurement of serum anti-Müllerian hormone (AMH) has become increasingly widespread since it provides information about the activity of the male gonad without the need for dynamic tests, and also reflects the action of FSH and androgens within the testis. AMH is secreted in high amounts by Sertoli cells from fetal life until the onset of puberty. Basal AMH expression is not dependent on gonadotropins or sex steroids; however, FSH further increases and testosterone inhibits AMH production...
2016: International Journal of Pediatric Endocrinology
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