Precocious puberty: The clinical profile and the etiological classification of children presented at a tertiary care children’s hospital

Aftab, Syed; Manzoor, Jaida; Mahmood, Qaiser; Shaheen, Tahir

doi:10.12669/pjms.38.4.4816

Cited by 6 publications

(7 citation statements)

References 18 publications

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“…Puberty onset might be affected in different types of CAH [ 73 ]. Premature pubarche described in some of the patients we mentioned may be caused by an elevation of testosterone and Δ4 steroids due to conversion by the 3βHSD type I enzyme, while type II enzyme is less productive [ 38 ].…”

Section: Discussionmentioning

confidence: 99%

Approach of Heterogeneous Spectrum Involving 3beta-Hydroxysteroid Dehydrogenase 2 Deficiency

et al. 2022

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We aim to review data on 3beta-hydroxysteroid dehydrogenase type II (3βHSD2) deficiency. We identified 30 studies within the last decade on PubMed: 1 longitudinal study (N = 14), 2 cross-sectional studies, 1 retrospective study (N = 16), and 26 case reports (total: 98 individuals). Regarding geographic area: Algeria (N = 14), Turkey (N = 31), China (2 case reports), Morocco (2 sisters), Anatolia (6 cases), and Italy (N = 1). Patients’ age varied from first days of life to puberty; the oldest was of 34 y. Majority forms displayed were salt-wasting (SW); some associated disorders of sexual development (DSD) were attendant also—mostly 46,XY males and mild virilisation in some 46,XX females. SW pushed forward an early diagnosis due to severity of SW crisis. The clinical spectrum goes to: premature puberty (80%); 9 with testicular adrenal rest tumours (TARTs); one female with ovarian adrenal rest tumours (OARTs), and some cases with adrenal hyperplasia; cardio-metabolic complications, including iatrogenic Cushing’ syndrome. More incidental (unusual) associations include: 1 subject with Barter syndrome, 1 Addison’s disease, 2 subjects of Klinefelter syndrome (47,XXY/46,XX, respective 47,XXY). Neonatal screening for 21OHD was the scenario of detection in some cases; 17OHP might be elevated due to peripheral production (pitfall for misdiagnosis of 21OHD). An ACTH stimulation test was used in 2 studies. Liquid chromatography tandem–mass spectrometry unequivocally sustains the diagnostic by expressing high baseline 17OH-pregnenolone to cortisol ratio as well as 11-oxyandrogen levels. HSD3B2 gene sequencing was provided in 26 articles; around 20 mutations were described as “novel pathogenic mutation” (frameshift, missense or nonsense); many subjects had a consanguineous background. The current COVID-19 pandemic showed that CAH-associated chronic adrenal insufficiency is at higher risk. Non-adherence to hormonal replacement contributed to TARTs growth, thus making them surgery candidates. To our knowledge, this is the largest study on published cases strictly concerning 3βHSD2 deficiency according to our methodology. Adequate case management underlines the recent shift from evidence-based medicine to individualized (patient-oriented) medicine, this approach being particularly applicable in this exceptional and challenging disorder.

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Section: Discussionmentioning

confidence: 99%

Approach of Heterogeneous Spectrum Involving 3beta-Hydroxysteroid Dehydrogenase 2 Deficiency

et al. 2022

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“…A comprehensive evaluation of patients with suspected PP entails a thorough medical history and meticulous physical examination [5].…”

Section: Common Congenital/genetic Causes Includementioning

confidence: 99%

“…Thirdly, subtle symptoms of precocious puberty may go unnoticed, leading to selection bias. Future studies should aim to address these limitations by conducting prospective studies with larger sample sizes to further explore this important topic [5].…”

Section: The Impact Of Precocious Puberty In Femalesmentioning

confidence: 99%

The Increased Prevalence of Precocious Puberty in Female Children and its Association with the Link to Increased Sexual Imbalances in Later Life

Eldohemy,

Eldohemy

2024

AJPR

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Precocious puberty, the premature onset of secondary sexual characteristics before the age of 8 in girls, has emerged as a growing concern in pediatric endocrinology. The prevalence of precocious puberty has witnessed a noticeable rise in recent decades, attributed to various environmental, genetic, and lifestyle factors. This surge in early maturation poses significant challenges not only to affected individuals and their families but also to healthcare systems worldwide. Moreover, beyond the immediate physical changes, there exists a complex interplay between precocious puberty and future sexual imbalances. Studies suggest that early puberty may predispose females to a myriad of health issues, including increased risk of metabolic disorders, psychological challenges, and reproductive complications later in life. Furthermore, the societal implications of this trend cannot be overlooked, as it may exacerbate existing gender disparities and contribute to broader socio-cultural issues. Understanding the link between precocious puberty and future sexual imbalances is crucial for developing effective preventive strategies and providing comprehensive care to affected individuals. This necessitates interdisciplinary research efforts encompassing endocrinology, psychology, genetics, and public health. In conclusion, this review shall highlight the urgent need for continued investigation into the escalating prevalence of precocious puberty in female children and its far-reaching implications for sexual health and well-being across the lifespan. By elucidating the underlying mechanisms and risk factors, healthcare professionals can better address this growing public health concern and mitigate its long-term consequences on individuals and societies alike.

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“…Diperlukannya anamnesis, pemeriksaan fisik dan pemeriksaan penunjang serta perhatian khusus untuk gejala neurologis yang bersifat patologis (Kota AS 2023). Perhatian utama pada pubertas prekoks adalah pubertas prekoks bisa menjadi gejala klinis dari penyakit serius yang mendasari seperti tumor otak, tumor adrenal atau gonad dan lainnya (Aftab et al, 2022). Tatalakana pubertas prekoks tergantung variasi dan etiologi yang mendasarinya.…”

Section: Pendahuluanunclassified

Precocious Puberty: Etiology and Current Treatment

Rahma,

Maulida,

Perwita

et al. 2023

JBT

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Precocious puberty also known as premature puberty is an abnormal pubertal development that can affect a child's growth and development. The clinical manifestations of precocious puberty are generally diverse and based on etiology are classified into central precocious puberty (GnRH dependent) and peripheral precocious puberty (GnRH independent). The main concern with precocious puberty is that precocious puberty can be a clinical symptom of an underlying serious disease such as a brain tumor, adrenal or gonadal tumor and others. Early identification of etiology plays an important role in prevention, diagnosis, and treatment of this disease. This literature review aims to determine the etiology and current management of precocious puberty. This literature review uses the keywords "Precocious Puberty AND etiology AND treatment" through the National Center for Biotechnology Information (NCBI) and Google Scholar databases. This article uses 11 articles that were used as references in its preparation. In conclusion, it is necessary to know the etiology of precocious puberty using imaging examinations for optimal management and excluding malignant abnormalities. The current treatment for central precocious puberty is GnRH agonists (gold-standard) and surgery in cases of intracranial lesions and peripheral precocious puberty using a combination of androgen antagonists (spironolactone) and aromatase inhibitors (anastrozole, testolactone) and surgery is indicated for gonadal and adrenal tumors. The role of parents is very important in early detection of precocious puberty, because the earlier the therapy, the better the prognosis.

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Precocious puberty: The clinical profile and the etiological classification of children presented at a tertiary care children’s hospital

Cited by 6 publications

References 18 publications

Approach of Heterogeneous Spectrum Involving 3beta-Hydroxysteroid Dehydrogenase 2 Deficiency

Approach of Heterogeneous Spectrum Involving 3beta-Hydroxysteroid Dehydrogenase 2 Deficiency

The Increased Prevalence of Precocious Puberty in Female Children and its Association with the Link to Increased Sexual Imbalances in Later Life

Precocious Puberty: Etiology and Current Treatment

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