scholarly journals Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

2012 ◽  
Vol 158A (11) ◽  
pp. 2733-2742 ◽  
Author(s):  
Sonja A. de Munnik ◽  
Barto J. Otten ◽  
Jeroen Schoots ◽  
Louise S. Bicknell ◽  
Salim Aftimos ◽  
...  
Keyword(s):  
Sexual Development ◽  
Gorlin Syndrome ◽  
Primordial Dwarfism ◽  
Secondary Sexual

scholarly journals Mouse Fem1b interacts with the Nkx3.1 homeoprotein and is required for proper male secondary sexual development

2008 ◽  
Vol 237 (10) ◽  
pp. 2963-2972 ◽  
Author(s):  
Xi Wang ◽  
Nishita Desai ◽  
Ya-Ping Hu ◽  
Sandy M. Price ◽  
Cory Abate-Shen ◽  
...  
Keyword(s):  
Sexual Development ◽  
Secondary Sexual

scholarly journals An XO-X ring X chromosome mosaicism in an individual with normal secondary sexual development.

1966 ◽  
Vol 3 (2) ◽  
pp. 129-133 ◽  
Author(s):  
A M Bishop ◽  
C E Blank ◽  
K Simpson ◽  
C J Dewhurst
Keyword(s):  
X Chromosome ◽  
Sexual Development ◽  
Chromosome Mosaicism ◽  
Secondary Sexual

PRECOCIOUS GROWTH OF SEXUAL HAIR WITHOUT OTHER SECONDARY SEXUAL DEVELOPMENT; "PREMATURE PUBARCHE," A CONSTITUTIONAL VARIATION OF ADOLESCENCE

PEDIATRICS ◽  
1952 ◽  
Vol 10 (4) ◽  
pp. 426-432
Author(s):  
SAMUEL H. SILVERMAN ◽  
CLAUDE MIGEON ◽  
EUGENIA ROSEMBERG ◽  
LAWSON WILKINS
Keyword(s):  
Sexual Development ◽  
Present Report ◽  
Bone Age ◽  
Vaginal Smears ◽  
Laboratory Findings ◽  
Sexual Precocity ◽  
Precocious Adrenarche ◽  
Premature Pubarche ◽  
Urinary Estrogens ◽  
Secondary Sexual

GROWTH of sexual hair in a young child suggests the possibility that adrenal tumor or hyperplasia may be causing virilization or that true sexual precocity may be beginning. However, neither of these relatively serious conditions may exist. Approximately 10 years ago workers in the Endocrine Clinic of the Harriet Lane Home became aware of the fact that sexual hair may appear in early life long before there is any other secondary sexual development dependent upon either androgen or estrogen. Although this syndrome has been referred to briefly in textbooks as "precocious adrenarche" and "premature pubarche," no detailed studies of a series of cases have been recorded. The present report is based on a study of 29 children who developed sexual hair before the age of 8 years. It was possible to follow a number of these patients long enough to demonstrate that the condition is a benign variation in the pattern of sexual development and is followed later by normal adolescence. It seems important to bring the findings to the attention of pediatricians who may not be familiar with the syndrome and to discuss its differential diagnosis and probable etiology. Methods Urinary 17-ketosteroids (17-KS) were determined by a modification of the method of Callow, Callow and Emmons previously described, urinary estrogens were measured as the "fluorogenic phenols" by the method of Jailer. Vaginal smears stained by the method of Shorr were interpreted as described elsewhere. The "bone age" was based on the average epiphysial development at all the joints. Clinical and Laboratory Findings

Feminizing/demasculinizing effects of polychlorinated biphenyls on the secondary sexual development of Xenopus laevis

2007 ◽  
Vol 84 (3) ◽  
pp. 321-327 ◽  
Author(s):  
Zhan-Fen Qin ◽  
Xiao-Fei Qin ◽  
Lei Yang ◽  
Han-Ting Li ◽  
Xing-Ru Zhao ◽  
...  
Keyword(s):  
Xenopus Laevis ◽  
Polychlorinated Biphenyls ◽  
Sexual Development ◽  
Secondary Sexual

scholarly journals Relationship of obesity and secondary sexual development in girls

2016 ◽  
Vol 50 (1) ◽  
pp. 49
Author(s):  
Ida Ayu Sri Kusuma Dewi ◽  
Soetjiningsih Soetjiningsih ◽  
Yudha Patria
Keyword(s):  
Sexual Maturation ◽  
Sexual Development ◽  
Pathological Condition ◽  
Linear Regression Analysis ◽  
Univariate Analysis ◽  
Bone Age ◽  
Obese Group ◽  
School Students ◽  
Relationship Of ◽  
Secondary Sexual

Background Obesity is a pathological condition due to consumption of excessive amount of food and is associated with early sexual maturation and irregular cycle of menstruation. Early sexual maturation is estimated from the age of menarche.Objective To determine relationship of obesity and age of secondary sexual development in girls.Methods This cross-sectional study was performed on all elementary school students in 4 sub-districts at Denpasar. Nutritional status was determined by BMI. Radiologic examination was performed to determine the bone age. Data were analyzed with appropriate statstical methods.Results Mean chronological age of breasts development for B2 and B3 stage on obese group was younger than non-obese groups (9.0 vs 9.9, P = 0.001; 9.7 vs 10.9, P = 0.006). Early menarche more frequent in obese group than non-obese groups {PR 5 (CI 95% 1.33 to 19.71)}. Mean age of children who experienced menarche on obese group was younger than non-obese group {10.9(SD 0.61) vs 11.1 (SD 0.28). Univariate analysis showed that maturation age of secondary sexual development on obese groups was differed with non-obese group {8.9 (SD 0.21) vs 9.4 (SD 0.13). Linear regression analysis showed relationship between age of breasts and pubic hair growth on both groups.Conclusions This study established that mean age of secondary sexual development was younger in obese girl than non-obese group. Bone age range on obese girls was wider than non-obese girls. [Paediatr Indones. 2010;50:49-5].

scholarly journals Humanized Drosophila model of the Meier-Gorlin syndrome reveals conserved and divergent features of the Orc6 protein

2020 ◽  
Author(s):  
Maxim Balasov ◽  
Katarina Akhmetova ◽  
Igor Chesnokov
Keyword(s):  
Origin Recognition Complex ◽  
Autosomal Recessive Disorder ◽  
Gorlin Syndrome ◽  
Live Animal ◽  
Heterologous System ◽  
Drosophila Model ◽  
Primordial Dwarfism ◽  
Genes Encoding ◽  
Protein Functions ◽  
Variable Domains

AbstractMeier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by microtia, primordial dwarfism, small ears and skeletal abnormalities. Patients with MGS often carry mutations in the genes encoding the subunits of the Origin Recognition Complex (ORC), components of the pre-replicative complex (pre-RC) and replication machinery. Orc6 is an important component of ORC and has functions in both DNA replication and cytokinesis. A mutation in conserved C-terminal motif of Orc6 associated with MGS impedes the interaction of Orc6 with core ORC. Recently, new mutation in Orc6 was also identified however, it is localized in the N-terminal domain of the protein. In order to study the functions of Orc6 we used human gene to rescue the orc6 deletion in Drosophila. Using the “humanized” Orc6-based Drosophila model of the Meier-Gorlin syndrome we discovered that unlike previous Y225S MGS mutation in Orc6, the K23E substitution in the N-terminal TFIIB-like domain of Orc6 disrupts the protein ability to bind DNA. Our studies revealed the importance of evolutionary conserved and variable domains of Orc6 protein and allowed the studies of human protein functions and the analysis of the critical amino acids in live animal heterologous system as well as provided novel insights into the mechanisms underlying MGS pathology.

GROWTH DISTURBANCES AND VALUES FOR HORMONE EXCRETION IN VARIOUS FORMS OF PRECOCIOUS SEXUAL DEVELOPMENT

PEDIATRICS ◽  
1961 ◽  
Vol 28 (2) ◽  
pp. 258-275
Author(s):  
Pierre Ferrier ◽  
Thomas H. Shepard ◽  
Elizabeth Knapp Smith
Keyword(s):  
Precocious Puberty ◽  
Sexual Development ◽  
Laboratory Finding ◽  
Vaginal Smear ◽  
Bone Maturation ◽  
Premature Thelarche ◽  
Sexual Precocity ◽  
Premature Adrenarche ◽  
Primordial Dwarfism ◽  
Hormone Excretion

Forty-two children with precocious sexual development have been classified according to: a) constitutional sexual precocity, b) premature adrenarche, and c) premature thelarche. Constitutional sexual precocity and premature adrenarche are associated with excessive growth, advance in bone maturation, and elevation of the urinary 17-ketosteroids. In contrast, in premature thelarche growth, bone maturation and 17-ketosteroids were normal. The presence of estrogenization of the vaginal smear was the most helpful laboratory finding in differentiating constitutional sexual precocity from the other two conditions. The presence of detectable urinary gonadotropins in precocious puberty is of limited help. Two patients with primordial dwarfism and associated precocious puberty are reported. The occurrence of constitutional precocious puberty in a brother and a sister is described. This is apparently the first reported instance in which familial precocious puberty occurs in either sex.

scholarly journals EFFECT OF A LONG ACTING LHRH ANALOGUE AND GH ON THE SUPPRESSION OF SECONDARY SEXUAL DEVELOPMENT AND FINAL HEIGHT

1993 ◽  
Vol 33 ◽  
pp. S88-S88
Author(s):  
M Ohba ◽  
Y Igarashi ◽  
E Ogawa ◽  
I Fujiwara ◽  
A Asanuma ◽  
...  
Keyword(s):  
Sexual Development ◽  
Final Height ◽  
Lhrh Analogue ◽  
Long Acting ◽  
Secondary Sexual

Assessment of Secondary Sexual Development of Adolescent School Boys of Aligarh

2017 ◽  
Vol 8 (2) ◽  
pp. 337
Author(s):  
Mohammad Atif ◽  
M Athar Ansari ◽  
Zulfia Khan ◽  
Anees Ahmad
Keyword(s):  
Sexual Development ◽  
Secondary Sexual
Sign in / Sign up

Export Citation Format

Share Document