Complete androgen insensitivity syndrome coexisting with müllerian duct remnants: a case report and literature review.

This study represents the first documentation of the coexistence of complete androgen insensitivity syndrome (CAIS) with Müllerian duct remnants (MDRs) in mainland China. Additionally, we provide a comprehensive review of the existing literature concerning CAIS with MDRs resulting from gene mutations. This study broadens the clinical spectrum of CAIS and offer novel insights for further exploration into Müllerian duct regression.

Clinical characteristics of sitosterolemic children with xanthomas as the first manifestation.

Background: Sitosterolemia (STSL) is an extremely rare genetic disease. Xanthomas as the first symptom are frequently misinterpreted as familial hypercholesterolemia (FH) in children. Inappropriate treatment may deteriorate the condition of STSL.

Therapeutic effects of growth hormone combined with low-dose stanozolol on growth velocity and final height of girls with Turner syndrome.

Objective: Turner syndrome (TS), which is characterized by short stature and gonadal dysfunction, is managed by pharmacotherapy. This study aimed to investigate the therapeutic effects of recombinant human growth hormone (rhGH) combined with low-dose stanozolol on the growth and final adult height (FAH) of girls with Turner syndrome (TS).

Design: Prospective study.

[Effect of gonadotropin-releasing hormone analog combined with stanazolol on final height in girls with idiopathic central precocious puberty and apparent decrease of linear growth].

Objective: To evaluate the effect of combined use of stanazolol (ST) on the final adult height (FAH) in girls with idiopathic central precocious puberty (ICPP) and apparently decreased linear growth during gonadotropin-releasing hormone analog (GnRHa) therapy.

Method: Sixty-three girls with ICPP and decreased velocity of growth of height (HV<4 cm/yr) during GnRHa therapy were divided into 3 groups based on the following types of interventions:group 1 (n = 20), GnRHa+ST [25-30 µg/(kg·d) every 3-month followed by 3-month discontinuation], group 2 (n = 21), GnRHa+recombinant human growth hormone [rhGH, 1-1.1 U/(kg·w)], group 3 (n = 22), GnRHa alone.

Associations between serum apelin-12 levels and obesity-related markers in Chinese children.

Objective: To investigate possible correlations between apelin-12 levels and obesity in children in China and associations between apelin-12 and obesity-related markers, including lipids, insulin sensitivity and insulin resistance index (HOMA-IR).

Methods: Forty-eight obese and forty non-obese age- and gender-matched Chinese children were enrolled between June 2008 and June 2009. Mean age was 10.

Insulin resistance and adiponectin levels are associated with height catch-up growth in pre-pubertal Chinese individuals born small for gestational age.

Background And Objective: The study was performed to determine whether catch-up growth is associated with the development of insulin resistance and to explore serum endocrine markers associated with the metabolism of adipose tissue in a Chinese population born small for gestational age(SGA) SUBJECTS AND METHODS: We recruited 56 children born SGA with catch-up growth and 55 born without catch-up growth, who were further grouped into groups I (with BMI catch-up) and II (without BMI catch-up) respectively, as well as 52 children born appropriate for gestational age (AGA) with normal height. Their serum fasting insulin, fasting glucose, insulin-like growth factor-1, adiponectin, IGFBP-1, triglyceride concentrations, and the homeostasis assessment model for insulin resistance (HOMA-IR) were evaluated.

Results: (1) The HOMA-IR values in SGA-I with catch-up growth group were significantly higher than those in SGA-II with catch-up growth, SGA-I without catch-up growth and AGA children respectively.

Effects of a high-protein diet on insulin resistance and body fat in catch-up growth rats born small for gestational age.

Background/aim: This study was designed to evaluate the effects of a high-protein (HP) diet on insulin resistance and body fat in catch-up growth (CUG) rats born small for gestational age (SGA).

Methods: SGA rats were randomly divided into standard diet and HP diet groups. Perirenal fat weight and blood glucose, serum insulin and insulin-like growth factor-1 levels were measured at 4 and/or 8 weeks.

[Determination of serum steroids in monitoring therapy of congenital adrenal hyperplasia].

Objective: To assess the utility of serum steroids measurement in monitoring the treatment of children with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD).

Method: Nineteen Patients with CAH 21OHD aged (3.67±1.

[Rapid prenatal genetic diagnosis of a fetus with a high risk for Morquio A syndrome].

Objective: To provide rapid and accurate prenatal genetic diagnosis for a fetus with high risk of Morquio A syndrome.

Methods: Based on ascertained etiology of the proband and genotypes of the parents, particular mutations of the GALNS gene were screened at 10th gestational week with amplification refractory mutation system (ARMS), denaturing high performance liquid chromatography (DHPLC), and direct DNA sequencing.

Results: DHPLC screening has identified abnormal double peaks in the PCR products of exons 1 and 10, whilst only a single peak was detected in normal controls.

Clinical characteristics of adrenocortical tumors in children.

Background: Adrenocortical tumors (ACTs) are rare in children. Because of the rarity and various manifestations of ACTs, patients of ACTs are not easily diagnosed. Some patients were misdiagnosed before surgery.

Stanozolol regulates proliferation of growth plate chondrocytes via activation of ERalpha in GnRHa-treated adolescent rats.

Improving the final adult height is one of the most important aims for treatment of central precocious puberty. Stanozolol (ST) is a synthetic derivative of androgen. In this study, we investigated the effects and the mechanisms of ST on the proliferation of growth plate chondrocytes isolated from adolescent rats treated with gonadotropin-releasing hormone analogue (GnRHa).

Epidermal growth factor receptor signalling mediates growth hormone-induced growth of chondrocytes from sex hormone-inhibited adolescent rats.

1. Growth hormone (GH) has been demonstrated to overcome the inappropriate deceleration of growth rate in children with central precocious puberty treated with gonadotropin-releasing hormone analogue (GnRHa). However, the underlying mechanisms remain largely unclear.

[Diagnostic value of serum levels of β-human chorionic gonadotropin (β-hcG) combined with β-hcG in cerebrospinal fluid for determining locations of germinomas in children with precocious puberty].

Objective: To study the clinical manifestations of germinoma in children with precocious puberty and to evaluate the diagnostic value of serum levels of β-human chorionic gonadotropin (β-hcG) combined with detections of β-hcG in cerebrospinal fluid (CSF).

Method: Twelve male children with germinomas confirmed by pathology from Jan. 2005 to Dec.

[Testis volume, pubic hair development and spermarcheal age in urban Chinese boys].

Objective: There is a trend that puberty is starting earlier in the 21st century, which is primarily based on studies of girls. The assessment of pubertal stages in the individual child is useful only if recent and reliable reference data from the same population are available for comparison. However, nationally representative pubertal data for Chinese boys in China are lacking.

Association between height and weight catch-up growth with insulin resistance in pre-pubertal Chinese children born small for gestational age at two different ages.

This study was performed to test whether children born small for gestational age (SGA) with catch-up growth (CUG) could be associated with the early development of insulin resistance and the β-cell dysfunction and to explore the impacts of height CUG and weight CUG on the insulin resistance in a Chinese population. A total of 30 children born SGA with CUG, 37 non-CUG (NCUG), and 42 born appropriate for gestational age (AGA) with normal height were recruited. Their fasting serum insulin, fasting glucose, insulin-like growth factor-1 (IGF-1) concentrations, and the homeostasis assessment model for insulin resistance (HOMA-IR) and β-cell function (HOMA%) were evaluated.

[Stanozolol activates the cross-talk of estrogen receptor alpha-insulin-like growth factor-1 receptor-extracellular-signal regulated kinase 1/2 in the growth plate chondrocytes of estrogen-inhibited adolescent rats in vitro].

Objective: To investigate the effects and the mechanisms of stanozolol (ST) on the proliferation, maturation and differentiation of in vitro cultured growth plate chondrocyte isolated from gonadotropin releasing hormone analogue (GnRHa)-treated adolescent rats, to study if ST mediates the proliferation of chondrocytes via the estrogen receptor alpha (ERalpha), androgen receptor (AR) and/or insulin-like growth factor-1 receptor (IGF-1R) and interactions of the two receptor and IGF-1R receptor signaling pathway, to investigate the mechanism of the biological effects in ST promoting bone growth/maturity at molecular level.

Method: The rats were weaned at the end of 3 weeks and intramuscular injection of triptorelin of GnRHa preparations, qow x 2 was started. The rats were sacrificed at the end of 7 weeks, and then the tibiae growth plates were taken out with sterile procedure.

[Longitudinal study of the pattern of pubertal development in Cantonese schoolgirls].

Objective: To investigate the pattern of pubertal development in healthy Cantonese schoolgirls.

Method: From 1992 to 2001, 311 normal Cantonese schoolgirls, ages from 6.25 to 8.

[Efficacy and safety of recombinant human growth hormone solution in children with growth hormone deficiency in China: a multicenter trial].

Objective: Human growth hormone (hGH) is an essential therapeutic drug for the treatment of growth hormone (GH) deficiency (GHD). However, the process of dissolving hGH of the powder form is complicated and potentially hazardous. In the present study, we evaluated the efficacy and safety of preparation in the replacement therapy for children with GH deficiency.

[Establishment and validation of predictive model of short term responses to recombinant human growth hormone treatment in prepubertal short stature children with various growth hormone secretary statuses].

Unlabelled: It has been proved that to analyze the factors that determine responsiveness to rhGH and to develop growth prediction models can help doctors to individualize the treatment and maximize the effect.

Objectives: To set up and validate the predictive models of growth responses to rhGH treatment in the first year in prepubertal short stature children with various GH secretary statuses.

Methods: Growth responses to rhGH treatment in the first year, height velocities (HV) and increases in height SDS (DeltaHtSDS), in 62 prepubertal short stature children with various GH secretary statuses were analyzed retrospectively.

[Correlation between growth hormone/insulin-like growth factor-1 resistance and insulin resistance in non catch-up growth rats born small for gestational age].

Objective: To investigate the post-receptor signaling mechanism responsible for insulin resistance-induced growth hormone (GH) resistance in non-catch-up (NCU) growth rats born small for gestational age (SGA).

Methods: Twenty pregnant female SD rats were fed with restricted food (40% of normal intake, 9 g/d) throughout the pregnancy so as to develop NCU-SGA rats. The rats with their length and body weight < or = -2SD were out into the NCU-SGA group, and those with their length and body weight > -2SD were out into the catch-up (CU) growth group.