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57 DISEASES OF SEXUAL GLANDS IN CHILDREN
Authors & Affiliation
1. Esra Sundarsingh.
2. Bugubaeva Makhabat Mitalipovna.
(1. Student, International Medical Faculty, Osh State University, Osh, Kyrgyzstan.)
(2. Teacher, International Medical Faculty, Osh State University, Osh, Kyrgyzstan.)
The sexual glandstestes in males and ovaries in femalesplay a central role in reproduction and endocrine regulation. They are under the control of the hypothalamic-pituitary-gonadal (HPG) axis, which coordinates the release of hormones necessary for sexual maturation and fertility. Disruption at any level of this axis can result in significant reproductive and metabolic consequences.
Pediatric gonadal diseases may present at birth, during puberty, or in adolescence. Some, such as cryptorchidism or Turner syndrome, are apparent early in life, while others, like hypogonadism or polycystic ovary syndrome (PCOS), develop gradually. These disorders not only impact physical growth but also psychological well-being, making early recognition essential for optimal outcomes.
1. Cryptorchidism (Undescended Testes): Occurs in 2–4% of full-term male infants. If uncorrected, it increases the risk of infertility and testicular cancer. Hormonal therapy with hCG or GnRH analogs may aid descent, but surgery (orchidopexy) before 18 months remains the standard.
2. Testicular Torsion: A urological emergency leading to ischemic necrosis if untreated within six hours. Doppler ultrasound confirms the diagnosis, and bilateral orchidopexy is performed to prevent recurrence.
3. Hypogonadism: Classified as primary (testicular) or secondary (pituitary). In primary forms, Leydig cell dysfunction leads to low testosterone despite high LH/FSH levels. Secondary causes include Kallmann syndrome and pituitary lesions. Testosterone replacement restores pubertal progression and bone density.
4. Disorders of Sexual Development (DSDs): Encompass conditions like mixed gonadal dysgenesis and androgen insensitivity syndrome. These require genetic, endocrinological, and psychosocial evaluation. Management focuses on gender assignment, hormonal therapy, and family counseling.
5. Testicular Tumors: Germ cell tumors, though rare, account for the majority of pediatric testicular malignancies. Serum tumor markers (AFP, β-hCG) and imaging are vital for diagnosis. Prognosis is excellent with surgical excision and chemotherapy when indicated.
1. Premature Ovarian Insufficiency (POI): Premature depletion of ovarian follicles results in hypoestrogenism and elevated gonadotropins. Autoimmune disorders, chromosomal anomalies (e.g., Turner syndrome), or chemotherapy-induced damage are key causes. Management includes estrogen replacement and fertility counseling.
2. Ovarian Cysts and Tumors: Simple cysts are often functional and self-limited, while complex cysts may require surgical evaluation. Pediatric ovarian tumors are usually benign teratomas but may include malignant germ cell tumors requiring oncologic care.
3. Precocious Puberty: Occurs when secondary sexual characteristics develop before age 8 in girls. Central forms involve premature GnRH activation, whereas peripheral forms stem from ovarian cysts or tumors. Long-acting GnRH analogs effectively suppress puberty progression.
4. Polycystic Ovary Syndrome (PCOS): Characterized by anovulation, hyperandrogenism, and metabolic disturbances. Lifestyle changes, metformin, and hormonal contraceptives are mainstays of therapy. Early diagnosis prevents long-term metabolic complications.
5. Gonadal Dysgenesis: Seen in Turner and Swyer syndromes, leading to streak gonads and primary amenorrhea. Hormone replacement ensures proper pubertal development and bone health.
Pubertal onset represents a critical period regulated by the HPG axis. Gonadotropin-releasing hormone (GnRH) pulses from the hypothalamus stimulate pituitary release of FSH and LH, which in turn activate gonadal steroidogenesis. Disturbances in this cascade may lead to delayed or precocious puberty.
Delayed Puberty can result from constitutional growth delay, chronic illness, or gonadal failure. Affected children show absence of secondary sexual characteristics beyond age 13 in girls or 14 in boys. Treatment targets the underlying cause, with temporary hormone replacement if indicated.
Precocious Puberty, conversely, leads to early sexual maturation and rapid bone growth, often resulting in reduced final adult height. Etiologies include CNS lesions, McCune-Albright syndrome, or idiopathic activation. Timely intervention with GnRH analogs can normalize development.
Diagnostic evaluation starts with a detailed clinical history including growth patterns, pubertal staging, and family history. Laboratory assessment of serum LH, FSH, testosterone, estradiol, and inhibin B helps classify hypogonadism as primary or secondary. Imagingultrasound, MRIdetects anatomical abnormalities. Genetic testing identifies chromosomal disorders such as 45,X (Turner) or 47,XXY (Klinefelter).
Management involves endocrine replacement, surgery, and counseling. Early hormone therapy restores physiological function, while surgical interventions correct anatomical anomalies. Continuous follow-up ensures optimal linear growth, metabolic health, and psychosocial adaptation.
Diseases of the sexual glands profoundly affect child growth, bone metabolism, and emotional development. Cryptorchidism and ovarian cysts remain leading causes of pediatric gonadal pathology, but DSDs demand complex multidisciplinary care. Genetic studies have elucidated key mutationsSRY, SOX9, NR5A1underlying gonadal dysgenesis and infertility.
Psychological dimensions are equally vital; disorders impacting puberty and sexual identity can lead to anxiety, low self-esteem, and social withdrawal. Involving psychologists and family therapists ensures comprehensive care.
In developing nations, late diagnosis due to social stigma and limited access to endocrinologists remains a challenge. Awareness programs and neonatal screening can significantly improve early detection rates.
Recent advances in molecular genetics and imaging have transformed the understanding of pediatric gonadal disorders. Next-generation sequencing enables identification of novel mutations in genes regulating gonadal differentiation and hormone synthesis. MRI with diffusion-weighted imaging provides superior evaluation of gonadal masses and vascular anomalies.
Emerging therapies include fertility preservation techniques such as cryopreservation of gonadal tissue before chemotherapy and the use of recombinant FSH in hypogonadotropic hypogonadism. Research in stem cell biology aims to regenerate functional gonadal tissue, offering hope for children with irreversible gonadal failure.
Additionally, psychosocial frameworks now emphasize gender-affirming care and long-term quality-of-life outcomes, ensuring treatment aligns with patient identity and well-being.
Diseases of the sexual glands in children require a holistic approach integrating endocrinology, surgery, genetics, and psychology. Early detection through hormonal and imaging assessments enables timely therapy that supports normal puberty and fertility. Advances in molecular medicine and fertility preservation offer new opportunities for affected children. Sustained interdisciplinary collaboration will continue to improve the prognosis and life quality of pediatric patients with gonadal disorders.
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