scholarly journals Puberty in a case with novel 17-hydroxylase mutation and the putative role of estrogen in development of pubic hair

2009 ◽  
Vol 160 (2) ◽  
pp. 325-330 ◽  
Author(s):  
Serap Turan ◽  
Abdullah Bereket ◽  
Tulay Guran ◽  
Teoman Akcay ◽  
Mahboubeh Papari-Zareei ◽  
...  
Keyword(s):  
Serum Levels ◽  
Pubic Hair ◽  
Breast Development ◽  
Homozygous Mutation ◽  
Hormone Production ◽  
Adrenal Androgens ◽  
Undetectable Serum ◽  
Irregular Menses ◽  
Hair Development

Objective17-Hydroxylase/17,20-lyase deficiency (17OHD) results from mutations in the CYP17A1 gene, leading to failure to synthesize cortisol, adrenal androgens, and gonadal steroids. Adrenarche is a consequence of the increased production of adrenal androgens. Here, we report a case carrying novel R239Q mutation causing complete functional loss of CYP17A1, and thus absence of adrenal and gonadal sex hormone production. The patient has had unexpected pubic hair development and insufficient breast development with estrogen replacement therapy. Possible mechanisms leading to pubic hair development and breast underdevelopment are discussed.Patient and methodsA 15-year-old female born to consanguineous parents presented with the lack of full breast development and irregular menses after the age of 14 years. She had Tanner III breast development on one side, Tanner I on the other side and Tanner I pubic hair and, no axillary hair development. The serum levels of FSH, LH, and progesterone were high and, estradiol was low. The measurement of basal and ACTH-stimulated steroids was consistent with the diagnosis of 17OHD. Genetic analysis revealed novel homozygous mutation R239Q in CYP17A1 gene. Therapy with hydrocortisone was initiated and followed by the addition of conjugated estrogen. Her breast development did not improve considerably, however, pubic hair development started after estrogen treatment in spite of undetectable serum levels of androgens.ConclusionThis case study suggests that estrogen exerts a permissive effect on pubic hair development in girls, even in the presence of very low-circulating androgens, and impaired breast development might be due to estrogen/progesterone imbalance in breast tissue.

Hypothyroidism and Precocious Sexual Development: Another Case

PEDIATRICS ◽  
1973 ◽  
Vol 52 (1) ◽  
pp. 149-150
Author(s):  
Adolfo Perez Comas
Keyword(s):  
Weight Gain ◽  
Short Stature ◽  
Growth Retardation ◽  
Sexual Development ◽  
Similar Case ◽  
Pubic Hair ◽  
Breast Development ◽  
Attention Span ◽  
Admission Data ◽  
Irregular Menses

Recently, an article in Pediatrics by Costin et al.1 described two new cases of hypothyroidism and precocious sexual development. I would like to report another similar case with our available data. M.L.M., a 13-year-old girl was first seen by us at age 12-4/12 for short stature. Her history included growth retardation, diminution of attention span, somnolence, anorexia with weight gain, and constipation beginning between ages 4 to 6. At 9½ years of age irregular menses began, breast development was first noticed at 10 years, and pubic hair at 11½ years. Her initial admission data are in Table I.

scholarly journals 46,XY Disorder of Sex Development Caused by 17α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation ofCYP17A1Gene: Consequences of Late Diagnosis

2018 ◽  
Vol 2018 ◽  
pp. 1-6 ◽  
Author(s):  
Giampaolo Papi ◽  
Rosa Maria Paragliola ◽  
Paola Concolino ◽  
Carlo Di Donato ◽  
Alfredo Pontecorvi ◽  
...  
Keyword(s):  
Ethinyl Estradiol ◽  
Tanner Stage ◽  
Pubic Hair ◽  
Breast Development ◽  
Normal Male ◽  
Primary Amenorrhea ◽  
Homozygous Mutation ◽  
Tall Stature ◽  
Disorder Of Sex Development ◽  
Sex Development

Context.Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease due to specific enzyme deficiencies in the adrenal steroidogenesis pathway.Case Description.A 40-year-old Chinese woman was referred to the Endocrine Unit for the work-up of a syndrome characterized by long-lasting and multidrug resistant high blood pressure, severe hypokalemia with metabolic alkalosis, and primary amenorrhea. The patient presented with sexual infantilism, lack of breast development, absence of axillary and pubic hair, tall stature, and slenderness. CT scan revealed enlarged adrenal glands bilaterally and the absence of the uterus, the ovaries, and the Fallopian tubes. Furthermore, diffuse osteopenia and osteoporosis and incomplete ossification of the growth plate cartilages were demonstrated. Chromosomal analysis showed a normal male 46,XY, karyotype, and on molecular analysis of theCYP17A1gene she resulted homozygous for the g.4869T>A; g.4871delC (p.Y329Kfs?) mutation in exon 6. Hydrocortisone and ethinyl-estradiol supplementation therapy led to incomplete withdrawal of antihypertensive drug and breast development progression to Tanner stage B2 and slight height increase, respectively.Conclusions.We describe a late-discovered case of CAH with 46,XY disorder of sex development. Deficiency of 17α-hydroxylase/17,20-lyase due to a homozygous CYP17A1 gene mutation was the underlying cause. Laboratory, imaging, and genetic features are herein reported and discussed.

Infection and pubertal timing: a systematic review

2016 ◽  
Vol 7 (6) ◽  
pp. 636-651 ◽  
Author(s):  
J. A. McDonald ◽  
S. M. Eng ◽  
O. O. Dina ◽  
C. M. Schooling ◽  
M. B. Terry
Keyword(s):  
Psychosocial Adjustment ◽  
Animal Studies ◽  
Pubertal Timing ◽  
Pubertal Development ◽  
Pubic Hair ◽  
Population Characteristics ◽  
Breast Development ◽  
Age At Menarche ◽  
Eligibility Criteria ◽  
Hair Development

The decline in age of pubertal timing has serious public health implications ranging from psychosocial adjustment problems to a possible increase in reproductive cancers. One biologically plausible explanation for the decline is a decrease in exposures to infections. To systematically review studies that assess the role of infection in pubertal timing, Medline, Web of Science and EMBASE were systematically searched and retrieved studies were reviewed for eligibility. Eligible studies examined the association between infections, including microbial exposures, and physical pubertal characteristics (breast, genitalia and pubic hair development) or age at menarche. We excluded studies that were published in a language other than English, focused on precocious puberty, were case studies, and/or included youth with autoimmune diseases. We report on study design, population characteristics, measurement of infection and puberty and the main effects of infection on pubertal development. Based on our search terms we identified 1372 unique articles, of which only 15 human and five animal studies met our eligibility criteria. Not all studies examined all outcomes. Infection was associated with later breast development (4/4 human studies), with less consistent evidence for genitalia and pubic hair development. Seven studies assessed age at menarche with inconsistent findings (three supporting later, four no association). We conclude that a small but consistent literature supports that infection is associated with later breast development; the evidence for other pubertal events and age at menarche is less clear. Where fewer childhood infections coincide with the rise in incidence of hormone-related cancers.

Reliability of pubertal maturation self-assessment in a school-based survey

2015 ◽  
Vol 28 (3-4) ◽  
Author(s):  
Somchit Jaruratanasirikul ◽  
Piyawut Kreetapirom ◽  
Nattaporn Tassanakijpanich ◽  
Hutcha Sriplung
Keyword(s):  
Line Drawing ◽  
Weighted Kappa ◽  
Pubic Hair ◽  
Kappa Coefficient ◽  
Short Description ◽  
Breast Development ◽  
Self Assessment ◽  
Percent Agreement ◽  
Self Assessments ◽  
Hair Development

AbstractTo assess the reliability of pubertal self-assessment of Thai adolescents.Some 927 girls and 997 boys, aged 8–18 years, from nine schools in Hat-Yai municipality.The adolescents evaluated their pubertal status after being shown a line drawing of the five Tanner stages with a short description. Girls assessed their breast and pubic hair development, and boys assessed their pubic hair development. The pubertal self-assessments were compared to pubertal assessments made by a pediatrician who examined the children after their self-assessment. Kappa coefficient and percent agreement were used for statistical analysis.The percent agreement of breast and pubic hair development between the girl’s self-assessments and the assessments by the pediatrician were 60.8% and 78%, respectively. Kappa coefficient for breast assessment was 0.50 (95% confidence interval, CI 0.47–0.53) and for pubic hair 0.68 (95% CI 0.65–0.72). Nearly 30% of girls aged younger than 10 years overestimated their breast development status while 45% of girls aged over 14 years underestimated their breast development (p<0.001). For boys, the percent agreement of pubic hair development between the adolescents and the pediatrician was 76.4%, with a weighted kappa coefficient of 0.68 (95% CI 0.65–0.72).Pubertal self-assessment using line drawings with a short description can be used as a reliable method to assess pubic hair maturation in boys and girls, but can be used with less reliability to assess the breast maturation in young girls.

Psychological Effects of Precocious and Delayed Puberty

2010 ◽  
Author(s):  
Laura M. Derose ◽  
Julia A. Graber
Keyword(s):  
African American ◽  
Pubertal Development ◽  
Pubic Hair ◽  
Breast Development ◽  
Delayed Puberty ◽  
Sex Characteristics ◽  
African American Girls ◽  
Pubertal Onset ◽  
The Mean ◽  
Hair Development

The timing of pubertal onset is marked by substantial variability within the range of normative development. Pubertal onset has mainly been measured by appearance of secondary sex characteristics—pubic hair development across sexes, and breast development in girls and testicular development in boys. This chapter provides statistics for the average age of pubertal onset, including findings for how average age differs by race. The two major types of pubertal disorders, precocious puberty and delayed puberty, are described, with a brief synopsis of the possible causes (for a comprehensive review of medical causes, see Grumbach and Styne 2003). The major focus of the chapter is on the psychological and behavioral consequences of precocious and delayed puberty. Although the majority of research on this topic has included nonclinical samples (onset or delay of puberty nearing 2 standard deviations [SD] from the mean), findings would be applicable to children who exhibit clinical precocious or delayed puberty (onset or delay of puberty >2 SDs from the mean). Finally, the chapter reviews the clinical practices for “treating” puberty that is normative by pediatric standards. Breast budding is generally the first sexual characteristic to appear in females, and is most commonly classified by Marshall and Tanner’s (1969) five stages of development. Breast development begins in the United States between ages 8 and 13, with a mean age of 9.96 for Caucasian girls and a mean age of 8.87 for African American girls (Herman-Giddens et al. 1997). Pubic hair development typically begins shortly after breast budding; however approximately 20 percent of girls experience pubic hair development prior to breast budding (Brooks-Gunn and Reiter 1990). Pubic hair development also begins between the ages of 8 and 13 years, with a mean age 10.5 years in Caucasian girls and 8.8 years for African American girls (Herman-Giddens et al. 1997). Menarche is a late sign of pubertal development in girls and occurs following the peak in height velocity and during the rapid increase in weight and body fat (Tanner 1978). The mean age of menarche in North America is 12.88 years for Caucasian girls and 12.16 years for African American girls (Herman-Giddens et al. 1997).

scholarly journals Precocious Puberty – A Case Report

2016 ◽  
Vol 30 (2) ◽  
pp. 109-112
Author(s):  
Poly Begum ◽  
Dipti Rani Saha ◽  
Md Kamrul Hassan
Keyword(s):  
Precocious Puberty ◽  
Pubertal Development ◽  
Tanner Stage ◽  
Central Precocious Puberty ◽  
Female Child ◽  
Pubic Hair ◽  
Breast Development ◽  
Average Height ◽  
Hypothalamic Pituitary Axis ◽  
Hair Development

The parents of a 04-year-old girl bring her to a Gynaecologist because of breast development, appearance of pubic hair and periodic per vaginal bleeding. Her medical history is unremarkable. The parents are of average height, and the mother reports first menstruating when she was 11 years old. At physical examination, the girl is 100 cm tall , weighs 17 kg, and has a bodymass index of 17. Her pubertal development is classified as Tanner stage 3 breast development and Tanner stage 2 pubic hair development. She was diagnosed as a case of precocious puberity. Appearance of secondary sexual development before the age of 9 in a male child and before the age of 8 in a female child is called precocious puberty. When the cause of precocious puberty is premature activation of the hypothalamic-pituitary axis, it is called central or complete precocious puberty and she was a case of central precocious puberty. After proper consult she was treated by GnRHa suppressor of pituitary till 11 years of age.Bangladesh J Obstet Gynaecol, 2015; Vol. 30(2) : 109-112

Age of pubertal events among school girls in Lagos, Nigeria

2018 ◽  
Vol 31 (3) ◽  
pp. 313-321 ◽  
Author(s):  
Folakemi O. Irewole-Ojo ◽  
Idowu O. Senbanjo ◽  
Abiola O. Oduwole ◽  
Olisamedua F. Njokanma
Keyword(s):  
Social Class ◽  
Developed Countries ◽  
Pubic Hair ◽  
Cross Sectional Study ◽  
Overweight And Obesity ◽  
Breast Development ◽  
Cross Sectional ◽  
High Social Class ◽  
School Girls ◽  
Hair Development

AbstractBackground:Globally, there is a secular trend towards the reduced age for sexual maturity and menarche. This study aimed to determine the current age and factors associated with attainment of various stages of puberty in Nigerian girls.Methods:This study was a cross-sectional study involving 800 girls aged 6–15 years. The subjects were selected by stratified random sampling method from schools in Oshodi Local Government Area, Lagos State. They were interviewed and a physical examination was carried out to classify them into the various Tanner stages of breast and pubic hair maturational stages.Results:The median age of girls at first stage of breast maturation (B2), first stage of pubic hair development (PH2) and at menarche were 9.0, 9.0 and 12.0 years, respectively. Breast development was significantly related to normal nutritional status (adjusted odds ratio [AOR] 4.5, p<0.001), overweight (AOR 40.2, p<0.001), obesity (AOR 154.2, p<0.001) and upper social class (AOR 15.7, p<0.031). Pubic hair development was significantly related only to overweight (AOR 4.7, p<0.007) and obesity (AOR 15.7, p<0.001) while achievement of menarche was significantly related to overweight (AOR 0.1, p=0.005), obesity (AOR 0.1, p=0.0009), high social class (AOR 4.7, p<0.001) and being a member of the Hausa tribe (AOR 35.8, p<0.029).Conclusions:There is decline in age of pubertal maturation of girls in Nigeria and the major contributory factors appear to be overweight and obesity. These findings are consistent with the pattern in developed countries.

scholarly journals The possible role of Interleukin-6 as a regulator of insulin sensitivity in patients with neuromyelitis optica spectrum disorder

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Zhila Maghbooli ◽  
Abdorreza Naser Moghadasi ◽  
Nasim Rezaeimanesh ◽  
Abolfazl Omidifar ◽  
Tarlan Varzandi ◽  
...  
Keyword(s):  
Insulin Sensitivity ◽  
Neuromyelitis Optica ◽  
Serum Levels ◽  
Spectrum Disorder ◽  
Control Group ◽  
Neuromyelitis Optica Spectrum Disorder ◽  
Downstream Signaling ◽  
Reduce Insulin Sensitivity ◽  
Circulating Levels

Abstract Background Neuromyelitis optica spectrum disorder (NMOSD) is associated with inflammatory mediators that may also trigger downstream signaling pathways leading to reduce insulin sensitivity. Methods We aimed to determine the risk association of hyperinsulinemia in NMOSD patients with seropositive AQP4-IgG and the serum levels of interleukin (IL)-6 and IL-17A compared with the control group. Serum levels of metabolic (Insulin, Fasting Blood Sugar (FBS), lipid profile) and inflammatory (IL-6 and IL-17) markers were assessed in 56 NMOSD patients and 100 controls. Results Hyperinsulinemia was more prevalent in NMOSD patients independent of age, sex and body mass index (BMI) (48.2% vs. 26%, p = 0.005) compared to control group. After adjusting age, sex and BMI, there was significant association between lower insulin sensitivity (IS) and NMOSD risk (95% CI: Beta = 0.73, 0.62 to 0.86, p = 0.0001). Circulating levels of IL-6 and IL-17 were higher in NMOSD patients, and only IL-6 had an effect modifier for the association between lower insulin sensitivity and NMOSD risk. Conclusions Our data suggests that inflammatory pathogenesis of NMOSD leads to hyperinsulinemia and increases the risk of insulin resistance.

scholarly journals Role of endocannabinoid CB1 receptors in Streptozotocin-induced uninephrectomised Wistar rats in diabetic nephropathy

2021 ◽  
Vol 10 (1) ◽  
Author(s):  
Jayarami Reddy Medapati ◽  
Deepthi Rapaka ◽  
Veera Raghavulu Bitra ◽  
Santhosh Kumar Ranajit ◽  
Girija Sankar Guntuku ◽  
...  
Keyword(s):  
Diabetic Nephropathy ◽  
Transforming Growth Factor Beta ◽  
Transforming Growth Factor ◽  
Morphological Changes ◽  
Serum Levels ◽  
Cb1 Receptors ◽  
Protective Effects ◽  
Renal Hypertrophy ◽  
Necrosis Factor Alpha

Abstract Background The endocannabinoid CB1 receptor is known to have protective effects in kidney disease. The aim of the present study is to evaluate the potential agonistic and antagonistic actions and to determine the renoprotective potential of CB1 receptors in diabetic nephropathy. The present work investigates the possible role of CB1 receptors in the pathogenesis of diabetes-induced nephropathy. Streptozotocin (STZ) (55 mg/kg, i.p., once) is administered to uninephrectomised rats for induction of experimental diabetes mellitus. The CB1 agonist (oleamide) and CB1 antagonist (AM6545) treatment were initiated in diabetic rats after 1 week of STZ administration and were given for 24 weeks. Results The progress in diabetic nephropathy is estimated biochemically by measuring serum creatinine (1.28±0.03) (p < 0.005), blood urea nitrogen (67.6± 2.10) (p < 0.001), urinary microprotein (74.62± 3.47) (p < 0.005) and urinary albuminuria (28.31±1.17) (p < 0.0001). Renal inflammation was assessed by estimating serum levels of tumor necrosis factor alpha (75.69±1.51) (p < 0.001) and transforming growth factor beta (8.73±0.31) (p < 0.001). Renal morphological changes were assessed by estimating renal hypertrophy (7.38± 0.26) (p < 0.005) and renal collagen content (10.42± 0.48) (p < 0.001). Conclusions From the above findings, it can be said that diabetes-induced nephropathy may be associated with overexpression of CB1 receptors and blockade of CB1 receptors might be beneficial in ameliorating the diabetes-induced nephropathy. Graphical abstract

scholarly journals F4/80+ Kupffer Cell-Derived Oncostatin M Sustains the Progression Phase of Liver Regeneration through Inhibition of TGF-β2 Pathway

Molecules ◽  
2021 ◽  
Vol 26 (8) ◽  
pp. 2231
Author(s):  
Qingjun Lu ◽  
Hao Shen ◽  
Han Yu ◽  
Jing Fu ◽  
Hui Dong ◽  
...  
Keyword(s):  
Liver Regeneration ◽  
Serum Levels ◽  
Inhibitory Effect ◽  
Regenerative Process ◽  
Oncostatin M ◽  
Hepatocyte Proliferation ◽  
Initiation Phase ◽  
Distinct Role

The role of Kupffer cells (KCs) in liver regeneration is complicated and controversial. To investigate the distinct role of F4/80+ KCs at the different stages of the regeneration process, two-thirds partial hepatectomy (PHx) was performed in mice to induce physiological liver regeneration. In pre- or post-PHx, the clearance of KCs by intraperitoneal injection of the anti-F4/80 antibody (α-F4/80) was performed to study the distinct role of F4/80+ KCs during the regenerative process. In RNA sequencing of isolated F4/80+ KCs, the initiation phase was compared with the progression phase. Immunohistochemistry and immunofluorescence staining of Ki67, HNF-4α, CD-31, and F4/80 and Western blot of the TGF-β2 pathway were performed. Depletion of F4/80+ KCs in pre-PHx delayed the peak of hepatocyte proliferation from 48 h to 120 h, whereas depletion in post-PHx unexpectedly led to persistent inhibition of hepatocyte proliferation, indicating the distinct role of F4/80+ KCs in the initiation and progression phases of liver regeneration. F4/80+ KC depletion in post-PHx could significantly increase TGF-β2 serum levels, while TGF-βRI partially rescued the impaired proliferation of hepatocytes. Additionally, F4/80+ KC depletion in post-PHx significantly lowered the expression of oncostatin M (OSM), a key downstream mediator of interleukin-6, which is required for hepatocyte proliferation during liver regeneration. In vivo, recombinant OSM (r-OSM) treatment alleviated the inhibitory effect of α-F4/80 on the regenerative progression. Collectively, F4/80+ KCs release OSM to inhibit TGF-β2 activation, sustaining hepatocyte proliferation by releasing a proliferative brake.

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