Development Of Secondary Sexual Characteristics Research Articles

Features of the biological development of schoolchildren in the Moscow region with different levels of health

BACKGROUND: The study of the health status of children and the dynamics of the physical and biological development of schoolchildren remains an urgent scientific issue both in our country and worldwide. The lifestyles of modern children and adolescents change based on regional standards for physical and biological development. AIM: To analyze the dynamics of puberty in modern schoolchildren depending on their health status and update biological development standards of schoolchildren in the Moscow region. MATERIALS AND METHODS: In the 2020s, an observational single-center cross-sectional study of the health status and physical and biological development of schoolchildren aged 12–16 years was performed in Moscow. Physical and biological development was assessed in each age and sex group according to standard methods using certified anthropometric instruments to measure height and weight. RESULTS: The study involved 508 schoolchildren with different levels of health, who were divided into groups 1 (n=107, 21.1%), 2 (n=208, 58.7%), and 3 (n=103, 20.2%). Diseases of the eye and its adnexal apparatus (24%) were prevalent functional abnormalities, and musculoskeletal system and connective tissue diseases were found in 20% of the sample. The level of biological development in groups 1 and 2 in comparison with group 3 did not differ significantly (р 0.05); however, later development of secondary sexual characteristics tended to occur in schoolchildren with chronic diseases. Significant (р=0.038) differences in the age at menarche in girls were found depending on the level of physical development. Thus, when developing standards for biological development, data of schoolchildren in groups 1 and 2 must be considered. CONCLUSION: The results of this study clearly demonstrated the prevalence of functional abnormalities and chronic diseases of various nosologies among schoolchildren in the Moscow region. The results of the study provided an update on the standards for the biological development of schoolchildren in Moscow.

A case of Mayer-Rokitansky-Kuster- Hauser syndrome type I

Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare congenital disorder characterised by absence of uterus and vagina. Ovaries and fallopian tubes are normal and functional. Its incidence is 1 in 4500-5000 female. Patients present with primary amenorrhea with normal external genitalia and development of secondary sexual characteristics, and 46XX karyotype. It is usually diagnosed by MRI, CT or transabdominal USG, with MRI being the gold standard.

Delayed Puberty and Management of Treatment.

Delayed puberty is defined as the lack of development of secondary sex characteristics in childhood. Based on a review of the literature, delayed puberty can be divided into three main categories: (i) hypergonadotropic hypogonadism (congenital and acquired), (ii) permanent hypogonadotropic hypogonadism (congenital and acquired), and (iii) transient hypogonadotropic hypogonadism [constitutional delay of growth and puberty (CDGP) and functional hypogonadotropic hypogonadism (FHH)]. CDGP is the most common cause of hypogonadism in both males and females, accounting for 60% and 30% respectively. Testosterone is the primary treatment for male hypogonadism, while estrogen and progesterone are used for female hypogonadism. However, in recent years, physiological induction therapy protocols such as human chorionic gonadotropin (hCG) monotherapy, hCG + Follicle-stimulating hormone combined therapy, and gonadotropin releasing hormone infusion have been recommended for the treatment of hypogonadotropic hypogonadism to increase long-term fertility success. There is no clear consensus on treatment protocols for physiological induction treatment and its effect on fertility. This review will discuss the clinical approach to hypogonadism, as well as traditional and physiological induction protocols.

Autism and risk of precocious puberty: A cohort study of 22,208 children

BackgroundAutism is a common neurodevelopmental disorder in children. Evidence suggests that autism is associated with changes in puberty onset. Precocious puberty (PP) is the early development of secondary sex characteristics. This nationwide cohort study explored PP risk in autistic children. MethodsUsing data from the Taiwan National Health Insurance Research Database, 11,104 autistic children and 11,104 age- and sex-matched non-autistic children were enrolled between 2001 and 2011. Participants were followed from enrollment until the end of 2011 to determine the incidence of PP. Cox regression models were used to account for confounding factors, such as demographic characteristics and physical and psychological comorbidities. ResultsAutistic children were more likely than non-autistic children to experience PP (hazard ratio: 6.48, 95% confidence interval: 3.61–11.62). Subgroup analyses by sex and intellectual disability further demonstrated consistent findings that PP was more prevalent in autistic children than in non-autistic children. ConclusionAutism is an independent risk factor for subsequent PP. Autistic children may have an increased PP risk, and early detection and treatment may reduce the psychological and physical consequences.

Does morphological maturity anticipate physiological maturity? The pattern of sexual maturity in males of the seabob shrimp Xiphopenaeus kroyeri (Heller, 1862)

The seabob shrimp Xiphopenaeus kroyeri (Heller, 1862) is an important fishing resource and is intensely exploited in South America. Therefore, for the correct and sustainable use of this fishing resource, it is necessary to employ multiple tools to determine the sexual maturity of this species, a key condition for the maintenance of this important economic resource. In this work, we evaluated the morphological (development of secondary sexual characteristics) and physiological (maturation of the reproductive system) sexual maturities in males of X. kroyeri, through the macroscopic and microscopic description of the testes, vasa deferentia and petasma from the juvenile stage to the adult stage. The male reproductive system of seabob shrimp is a paired organ with testes connected to a vasa deferentia, which is anatomically differentiated into three regions: proximal (PVD) (subdivided into anterior, or PVDa, and posterior, or PVDp), medial (MVD) and distal (DVD), the latter region being associated with the terminal ampulla. The morphological maturity of males preceded physiological maturity, meaning the petasma must be formed for the production of seminal fluid and the formation of spermatozoa contained in spermatophores to occur. Petasma formation occurred in the size class 12 ┤13 mm CL, while the production of spermatozoa and spermatophores occurred from 14.1 mm CL. These spermatophores are completely formed in the PVDp and are glycoproteic. Spermatophores are stored in the simple tube of the MVD and DVD. In the DVD, there is an accessory gland forming the ampulla, which produces part of the seminal fluid. The deposition of spermatophores occurs internally in the female’s thelycum with the aid of the petasma, which deposits the seminal fluid in the seminal receptacles or spermathecae. At the end of this process, the thelycum is sealed by a secretion from the accessory gland in the male’s ampulla, forming a sperm plug. Based on the results obtained here, we recommend that only physiologically mature males of X. kroyeri (> 14.1 mm CL) should be exploited by artisanal fisheries and that macroscopic inspection of the ampulla to determine physiological maturity in this species should be avoided, as this region of the DVD has the accessory gland as its main part, a structure responsible for forming the sperm plug, which does not contain spermatozoa or participate in the formation of spermatophores.

Efeitos anátomo-fisiológicos da castração pré-púbere em felinos (Felis catus) – revisão de literatura

Pre-pubertal castration in felines is a highly effective strategy for managing stray animal populations, thereby benefiting both public health and animal welfare. It helps prevent unwanted pregnancies, minimizes human-stray animal conflicts, and curtails the spread of diseases transmitted through mating. However, this practice has sparked debates among veterinarians and pet owners due to potential adverse effects. Surgical and anesthetic complications, including hypothermia and hypoglycemia, are concerns during pediatric procedures. There is also a possibility of altered development of secondary sexual characteristics, although these changes typically do not impact the animals' overall well-being. Metabolically, neutered cats tend to gain weight, raising the risk of obesity and diabetes mellitus. Skeletal concerns involve delayed bone closure, yet bone density remains largely unaffected. Lower urinary tract issues, like incontinence or obstruction, may also arise, albeit through complex mechanisms. Despite these concerns, the benefits of pre-pubertal castration in managing overpopulation and reproductive diseases outweigh the risks. With vigilant veterinary care and post-operative management, adverse effects can be mitigated, underscoring the importance of this practice in controlling stray cat populations.

Magnetic Resonance Imaging Findings in Mayer- Rokitansky-Küster-Hauser (MRKH) Syndrome: A Report of Two Cases

Introduction: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a kind of Müllerian duct anomaly characterized by the absence or underdevelopment of the uterus and the top two-thirds of the vagina. MRKH syndrome is characterized by primary amenorrhea in young women who exhibit typical development of secondary sexual characteristics and normal external genitalia. These individuals have normal and functioning ovaries and a karyotype of 46, XX. Gonadal dysgenesis is the most prevalent cause of primary amenorrhea, followed by this condition. This case report aims to elaborate on MRI findings in females with typical and atypical types of MRKH syndrome. Case Description: The authors describe two female patients who presented with primary amenorrhea, normal external genitalia, and typical secondary sexual characteristics. These patients underwent MRI to identify the uterine and vaginal structure and additional non-gynaecologic abnormalities. Conclusion: MRI is the best imaging technique for the accurate evaluation of pelvic anatomy, uterine aplasia, uterine development, vaginal structure, and location of the ovaries, hence essential in the diagnosis, classification, and surgical planning of MRKH syndrome.

Effects of the COVID-19 pandemic on the incidence of central precocious puberty; a narrative review.

Central precocious puberty (CPP) is the premature activation of the hypothalamus-pituitary-gonadal axis, resulting in the early development of secondary sexual characteristics. CPP classically occurs before the age of 8 years in girls and 9 years in boys. The aetiology of thisprecocious onset of puberty is governed by complex mechanistic interactions between genetic and environmental factors. The rates of CPP have been documented to have been rising before the COVID-19 pandemic; despite this, the incidence of CPP has increased exponentially since the start of the pandemic. There are multiple theories potentially explaining this change in incidence of CPP over COVID-19. These include the direct effect of SARS-coV-2 infection, increasing body mass index of adolescents oversequential lockdowns, changes in sleep patterns, increased use of electronic devices and levels of stress, andadditionally potential earlier detection of signs of CPP by parents and carers. Whilst there is evidence from observational cohorts, case studies and animal models for each of these factors, it is difficult to definitively prove which has had the greatest impact due to the mainly retrospective nature of the human research that has been conducted. Moreover, studies set in diverse settings with varying population make comparison complex. Additionally, each country responded differently to the COVID-19 pandemic and the lockdowns varied between locations, hence the effect of lockdown was not equal or universal. Despite this, similar trends have been identified, with various lifestyle changes that occurred over the pandemic being potentially influential factors on the development ofCPP.

Central precocious puberty: a review of diagnosis, treatment, and outcomes.

Central precocious puberty (CPP) refers to early activation of the hypothalamic-pituitary-gonadal (HPG) axis and is manifested by breast development in girls or testicular enlargement in boys before the normal physiological age ranges. CPP can be precipitated by intracranial pathology, exposure to high levels of sex steroids, or environmental risk factors, but most cases are idiopathic. Monogenic causes have also been identified. In this Review, we summarise pathophysiology, risk factors, diagnosis, and management of CPP. Concern for CPP should prompt referral to paediatric endocrinology where diagnosis is confirmed by clinical, biochemical, radiological, and genetic testing. CPP is treated with a gonadotropin-releasing hormone analogue, the primary aims of which are to increase adult height and postpone development of secondary sexual characteristics to an age that is more commensurate with peers. Although long-term outcomes of treatment with gonadotropin-releasing hormone analogues are reassuring, additional research on the psychological effect of CPP is needed.

A clinical case of hypothalamic syndrome combined with Klinefelter syndrome

the article describes a clinical case of a hypothalamic syndrome associated with a congenital disease - Klinefelter syndrome in a 21-year-old patient. Dysmetabolic complications were studied against the background of endocrine and genetic pathologies. Klinefelter syndrome was diagnosed in the patient at the age of 10, mosaic variant of karyotype 47XXY/46XY was detected. Against the background of a rare genetic pathology, signs of a hypothalamic puberty syndrome began to appear at the age of 15: acne, pink stretch marks on the lateral areas of the abdomen and breasts, gynecomastia, and excess weight. General clinical laboratory studies, carbohydrate metabolism indicators, sexual and thyroid hormones did not differ from reference values. The cortisol level in the blood was 23.4 mcg/dL, slightly exceeding the upper limit of the reference values (4.30-22.4 mcg/dL), indicating a state of mild hypercorticism. Manifestations of dysmetabolic cardiomyopathy were noted in the cardiovascular system, complicated by stable stage II arterial hypertension. The peculiarity of the clinical case is the combination of endocrine pathology with genetic pathology, which determines the specific appearance of the patient, and the presence of dysmetabolic complications without disturbances of carbohydrate metabolism in stage III obesity. The acceleration of puberty, which often occurs with the hypothalamic syndrome, did not occur due to the concomitant hypoandrogenic effect of Klinefelter syndrome. In the presence of hypothalamic syndrome in the patient, the late development of secondary sexual characteristics was noted, which is more characteristic of Klinefelter syndrome, but normal mental activity was preserved, which is rarely observed with the mosaic form of this genetic pathology. Another clinical feature is the absence of typical manifestations of hypogonadism in the post-pubertal period, which is confirmed by a normal level of male and female sex hormones in the blood, which is atypical. Due to the peculiarity of this clinical case, the patient's fertility can be preserved. In addition to the existing dysmetabolic complications in the patient and metabolic syndrome, there is a high risk of developing type 2 diabetes, atherosclerosis, osteoporosis, and breast cancer, because Klinefelter syndrome andhypothalamic syndrome complicate each other. Therefore, it is important to study the issue of the combination of these two pathologies, possible consequences, and ways to overcome them to improve thepatient's clinical prognosis and quality of life.

A toddler with testosterone: where did it come from?

Precocious development of secondary sexual characters not involving pulsatile gonadotropin secretion is known as gonadotropin independent precocious puberty or peripheral precocious puberty (PPP). This form of sexual precocity in males can occur due to gonadal, adrenal, or other testosterone secreting tumors (teratomas, hepatomas, and choriocarcinomas), untreated congenital adrenal hyperplasia, testotoxicosis, and familial male limited precocious puberty. We report a case of a 2-year-old boy with PPP caused due to hepatoblastoma. Complete surgical resection of the tumor was done, and the child received cisplatin chemotherapy.

THU198 Peripheral Precocious Puberty In Girls Due To Ovarian Cyst

Abstract Disclosure: H. Lee: None. J. Hwang: None. Y. Shim: None. S. Heo: None. Objective: Peripheral precocious puberty (PPP) is precocious development of secondary sexual characteristics caused by mechanisms that do not involve activation of pulsatile GnRH secretion. PPP in girl is less frequent than central precocious puberty (CPP). it is caused by various disease such as gonadal and adrenal tumors, ovarian cysts, hypothyroidism and exposure to exogenous sex steroids. In particular, discordant pubertal development with vaginal bleeding within one year of breast development suggests hyperestrogenic state, and may be caused by autonomous ovarian cysts, McCune-Albright syndrome (MAS) and hypothyroidism. We aimed to investigate clinical characteristics and long-term clinical course of PPP in girls with ovarian cyst. Methods: This study was conducted through a retrospective medical record analysis. We studied 12 patients who were diagnosed with PPP due to ovarian cyst after pelvic sonography from January 2003 to May 2022. Patients were examined for pelvic sonography when there was vaginal bleeding and/or nipple pigmentation in PPP. pelvic sonography findings, clinical characteristics, management and prognosis of patients with ovarian cysts were investigated. Results: Ten out of 12 cases had vaginal bleeding and the 3 cases had nipple pigmentation. E2 was elevated to median value 36 pg/mL ([IQR], 19-61). There was a total of 18 episodes of ovarian cyst including recurrence. The median size of cyst was 28 mm ([IQR], 24- 34). Surgical management was performed in one patient with large cyst of 70 mm. Aromatase inhibitor was used in three cases. Follow-up pelvic sonography was performed to confirm regression of ovarian cyst. Median time to regression of ovarian cyst was 6 months ([IQR], 3-9). Five cases were diagnosed with MAS. Later, In 4 out of 12 cases were progressed to CPP and cyst was recurred more than 2 episodes in 3 cases. Median total follow-up duration of cases was 2.5 years ([IQR], 0.9-5.3). Conclusion: Most of ovarian cysts in PPP disappear spontaneously. However, It may appear as a one of findings with MAS or can progress to CPP in recurrent case. Therefore, careful follow-up is necessary in ovarian cysts of PPP. Presentation: Thursday, June 15, 2023

FRI490 Association Between TSH Levels And Early Development Of Secondary Sexual Characteristics Among Children With Congenital Hypothyroidism

Abstract Disclosure: M.M. Nunez Stosic: None. T. Seeherunvong: None. Although hypothyroidism typically delays puberty, early pubertal development in patients with hypothyroidism and markedly elevated TSH levels has been reported. Recent studies investigated the association between thyroid function and timing of puberty among normal children. Jung et al. reported an association between serum TSH and LH levels in girls with central precocious puberty. By contrast Wilken et al. found an association between serum T4 level and onset of pubarche but not thelarche among female subjects. We investigated the association between serum TSH levels and onset of secondary sexual characteristics among patients with congenital hypothyroidism. A retrospective study was conducted including girls and boys aged ≥6 years and ≤ 18 years with confirmed primary congenital hypothyroidism who were seen in our pediatric endocrinology clinic at University of Miami, between May 2012 and May 2022. Age of onset of secondary sexual characteristics (SSC) such as body odor, acne, axillary hair, pubic hair, breast/testicular development was recorded. Early onset of SSC was defined by its presence in girls younger than 8 years and in boys younger than 9 years. Onset of SSC was considered early normal if it occurred between 8-9.5 years in girls and between 9-10.5 years in boys. A third group of patients were those with onset of SSC after 9.5 years in girls and after 10.5 years in boys. We recorded the serum TSH levels from age 6-8 years in girls and from 7-9 years in boys. We determined the average TSH levels and the proportion of the serum TSH level above normal range. IBM SPSS Statistics software version 28.0.0.0(190) was used for data analysis. Fifty-seven subjects with a history of congenital hypothyroidism, 36 girls (63.2%) and 21 boys (36.8%) were included in the study. Seventeen patients (29.8%) had early or early normal onset of SSC. The prevalence was more frequent among girls than boys, 14% and 3% respectively (p value= 0.046). Among all 57 subjects, only 9 had normal serum TSH. The mean proportion of TSH levels above normal limit was 62.4% in patients with early or normal early onset of SSC. By contrast, the mean proportion of serum TSH level above normal limit was 53.7% in those patients who had neither early nor early normal onset of SSC (p value=0.044). In summary, early and early normal onset of SSC was associated with higher TSH levels in children with congenital hypothyroidism. Further studies with a larger number of subjects will be needed to define further the specific SSC most associated with an abnormally elevated TSH. Presentation: Friday, June 16, 2023

FRI412 A Case of 46,XX Gonadal Dysgenesis With Mayer-Rokitansky-Küster-Hauser Syndrome And Primary Hypothyroidism

Abstract Disclosure: S. Al Allawi: None. R. Osman: None. Introduction: The association between Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome and gonadal dysgenesis is rarely reported in the literature. Coexistence of hypothyroidism with this condition is scarce and clinical correlation remains unclear. We describe a case of this rare clinical entity in conjunction with primary hypothyroidism. Clinical case: A 27-year-old Female with a medical history of primary hypothyroidism was referred to our clinic for evaluation of primary amenorrhea. She was born with a female phenotype. Growth was appropriate, but puberty was delayed with self-reported late pubarche at age 19. She never had a menstrual cycle, and had received hormonal replacement therapy (HRT) for a few months but failed to trigger menarche. However due to financial constraints, treatment was not continued. She was diagnosed with hypothyroidism since birth, for which she is currently maintained on levothyroxine 225 mcg daily. On physical exam, blood pressure was 126/72 mmHg, pulse rate 83 BPM, height 5’9”, BMI 34 kg/m2. No facial dysmorphisms or skeletal deformity were apparent. She had normal pubic and axillary hair distribution, breast budding consistent with Tanner Stage II. Genital examination revealed normal external genitalia and a blind vaginal pouch. Hormonal workup revealed hypergonadotrophic hypogonadism with estradiol < 0.5 pg/mL and post-menopausal range follicle-stimulating hormone (FSH) 36.7 mIU/mL. Thyroid stimulating hormone (TSH) 2.19 uIU/ml (nl 0.45-4.5 uIU/mL) and anti-TPO antibodies 10 IU/mL (nl 0-34 IU/mL). Prior thyroid ultrasound reported a small thyroid gland. Fluorescence in situ hybridization (FISH) analysis revealed 46XX karyotype. Abdominal and pelvic ultrasound showed normal kidneys with a non-visualized uterus and ovaries. Pelvic MRI confirmed the absence of both and showed a blind end vaginal pouch, leading to the conclusion of the coexistence of gonadal dysgenesis with MRKH. She was then placed on transdermal estradioltherapy. Conclusion: The association between gonadal dysgenesis (the most common cause of primary amenorrhea) and MRKH syndrome (the second most common cause) is infrequent. HRT remains the only therapeutic option. It aims to trigger the development of secondary sexual characteristics and prevent osteoporosis by allowing appropriate bone mineral accrual. Unfortunately, infertility remains the most significant consequential issue; hence the availability of good caring and psychological counseling should not be underestimated. The co-existence of likely non-immune primary hypothyroidism is even less frequent. To our knowledge, our case is the second reported case of this trilogy. Given the paucity of data, the association of this condition with primary hypothyroidism cannot be well established and can be coincidental. More studies are needed to determine if this condition has a higher prevalence of hypothyroidism. Presentation: Friday, June 16, 2023

FRI325 Pituitary Stalk Interruption Syndrome Presenting As Short Stature: A Case Report

Abstract Disclosure: S. Ravindra: None. S. Tirupati: None. Background: Pituitary stalk interruption syndrome (PSIS) is a rare congenital pituitary anatomical defect that leads to a variable degree of pituitary hormone deficiency. The classic neuroimaging findings of this condition include thin or interrupted stalk, absent or ectopic posterior pituitary, and hypoplastic anterior pituitary gland. The reported incidence of PSIS is 0.5 per 1,00,000 live births. The exact pathophysiology of this syndrome is not fully understood, but chromosomal microdeletions and perinatal asphyxia have some established roles in the literature as primary miscreants. Here we report a case of an adolescent male child who presented with complaints of short stature and absent secondary sexual characters development, diagnosed with PSIS following an MRI. Clinical Case: A 16-year-old male child was referred to the endocrinology department for the evaluation of short stature and delayed secondary sexual character development. This patient was born out of a non-consanguinous marriage and delivered at term by the vaginal route, with no other significant perinatal or family history. Psychomotor milestones were attained appropriately as per age but had poor linear growth. On examination, he had short stature - height 146cms (-2.7 SDS), weight: 53.5kg BMI: 23.5 Kg/m2 with normal vitals. Head-to-toe examination revealed immature facies, deep-seated eyes, broad nasal bridge, bilateral lipomastia, high-pitched voice, Tanner stage: A1P1, SPL:4cms, the testicular volume of 3cc bilaterally, with rest of the system-wise examinations being normal. Routine laboratory investigations (CBC, RFT, LFT, Electrolytes) were within normal limits. Bone age: 13years. The hormonal assessment showed central hypothyroidism, hypocortisolemia, and GH insufficiency, with pre-pubertal gonadotropin levels- suggestive of pan-hypopituitarism (Table 1). MRI pituitary showed anterior pituitary hypoplasia with interrupted stalk, and ectopic posterior pituitary, with no other brain anomalies which is consistent with the diagnosis of PSIS. The patient was initiated on hormone replacement therapy, currently taking hydrocortisone, growth hormone, levothyroxine, and testosterone. Conclusion: PSIS is a rare condition, that can present with various spectrum of clinical features. Signs and symptoms may not be evident in the neonatal and infancy period, therefore diagnosis is often delayed. Early diagnosis and treatment are crucial for preventing adverse effects of long-term hormonal deficiencies and improving the quality of life. Presentation: Friday, June 16, 2023

Differentiation of Idiopathic Central Precocious Puberty From Premature Thelarche Using Principal Component Analysis.

Nonprogressive premature thelarche (PT) is a self-limiting variant of early puberty, while idiopathic central precocious puberty (ICPP) is a disorder that causes progressive development of secondary sexual characteristics and often requires treatment. The diagnostic differentiation between these conditions is important but can be challenging since they often both initially present clinically with isolated breast development. To describe relevant clinical variables in a large cohort of girls referred for early puberty, and to evaluate clinical and biochemical parameters to distinguish between girls with ICPP and PT. This retrospective study included 1361 girls referred with signs of early puberty to a single, tertiary center from 2009 to 2019. We evaluated clinical presentation, medical history, growth velocity, bone age, hormonal serum concentrations, and gonadotropin-releasing hormone (GnRH) test results. Central precocious puberty was diagnosed in 11% (ICPP: n = 143, organic CPP: n = 11) girls, whereas 8% (n = 91 girls) presented with PT. Receiver operating characteristic (ROC) analysis showed several biochemical and anthropometric markers as potential parameters to differentiate between ICPP and PT; however, none were individually adequate. Principal component analysis (PCA)-derived clinical and hormone profiles could predict girls with ICPP from girls with PT with a specificity of 90% and sensitivity of 84%, outperforming any single marker. Differentiation of girls with ICPP and PT can be supported by individual clinical and biochemical parameters. However, dimension reduction of clinical and hormonal profiles by PCA improved the diagnostic value, which in the future may support the diagnostic process as a supplement to the GnRH test in evaluation of pubertal disorders.

Growth profile of children with beta-thalassemia major

Background: Retarded growth in thalassemic patient is complex and multi-factorial, it includes chronic hypoxia secondary to anemia when pre-transfusion haemoglobin is below 9 g/dl. Development of secondary sexual characteristics in thalassemic children is markedly delayed as compared to their non-thalassemic siblings and to the expected development criteria due to chronic hypoxia and iron overload. The main objective of the present study is to monitor the growth of these patients longitudinally Methods: This was a observational, cross sectional field study in Pune, Maharashtra. Result: Patients with beta-thalassemia major on regular blood transfusions have growth failure, deranged liver function and hypocalcaemia in conjunction with high serum ferritin levels Conclusions: Beta thalassemia major, having the potential of leading to multisystemic complications, is a chronic disease that should be treated and followed-up by a multidisciplinary approach.

Clinical feature and genetic analysis of a patient with Idiopathic hypogonadotropic hypogonadism due to a novel variant of CHD7 gene

To explore the clinical feature and genetic etiology of a patient with normosmic idiopathic hypogonadotropic hypogonadism (nIHH) due to variant of CHD7 gene. A patient who had presented at Anhui Provincial Children's Hospital in October 2022 was selected as the study subject. Clinical data of the patient was collected. The patient and his parents were subjected to trio-whole exome sequencing. Candidate variant was verified by Sanger sequencing and bioinformatic analysis. The patient had featured delayed development of secondary sexual characteristics but normal olfactory function. Genetic testing revealed that he has harbored a c.3052C>T (p.Pro1018Ser) missense variant of the CHD7 gene, for which both of his parents were of the wild type. The variant has not been recorded in the PubMed and HGMD databases. Analysis of amino acid sequences suggested that the variant site is highly conserved, and the variant may affect the stability of protein structure. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.3032C>T variant was classified as a likely pathogenic (PS2+PM2_Supporting+PP2+PP3+PP4). The delayed development of secondary sexual characteristics of the patient may be attributed to the c.3052C>T (p.Pro1018Ser) variant of the CHD7 gene. Above finding has expanded the variation spectrum of the CHD7 gene.

Clinical course of peripheral precocious puberty in girls due to autonomous ovarian cysts.

Peripheral precocious puberty (PPP) is the precocious development of secondary sexual characteristics without pulsatile gonadotropin-releasing hormone (GnRH) secretion. In girls, PPP suggests a hyper-oestrogenic state, such as autonomous ovarian cysts and McCune-Albright syndrome (MAS). We aimed to investigate PPP in girls with ovarian cysts, with or without MAS. A retrospective study design was used. The study included 12 girls diagnosed with ovarian cysts with PPP between January 2003 and May 2022. Pelvic sonography was performed in cases of vaginal bleeding or areolar pigmentation in PPP. The clinical characteristics, clinical courseand pelvic sonographic findings of girls with ovarian cysts were investigated. We found 18 episodes of ovarian cysts in the 12 girls. The median size of the ovarian cysts was 27.5 mm. Five of the girls were diagnosed with MAS. The median time to spontaneous regression was 6 months. Later, 4 out of 12 girls progressed to central precocious puberty (CPP), and three of them had a recurrence of ovarian cysts. Compared to the non-recurrent and recurrent groups, there was a difference in peak luteinizing hormone (LH) in the GnRH stimulation test and period to cyst regression. Most ovarian cysts in PPP spontaneously disappear. However, this couldbe one of the findings of MAS. Some girls progress from PPP to CPP. Therefore, follow-up isnecessary for ovarian cysts in patients with PPP. The recurrence of ovarian cysts may occur when spontaneous regression is prolonged.

Precocious Puberty as an Unusual Presentation in Mayer-Rokitansky-Kuster-Hauser Syndrome: A Case Report

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disorder that affects the female reproductive system, resulting in uterovaginal agenesis. It’s typically presented as primary amenorrhoea in adolescence in female with normal development of secondary sexual characteristics and 46, XX karyotype. In this article, we report an unusual case of MRKHS of a girl of 7 years old who consulted for premature thelarche & pubarche. She has a normal karyotype (46, XX) with normal external genetalia. Gonadotropin releasing hormone (GnRH) stimulation test revealed a peak LH level of 1.77 UI/l and peak FSH level of 5.44 UI/l. Imaging disclosed advanced bone age at 10 years. Pelvic MRI showed uterine hypoplasia with partial vaginal agenesis.