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Related Concept Videos

Signs of Puberty01:27

Signs of Puberty

Puberty is a critical phase, typically beginning between the ages of 8 and 13 in girls and 9 and 14 in boys, though timing can vary based on genetics, environmental factors, and overall health. This period is characterized by the development of secondary sexual characteristics and the attainment of reproductive potential. Endocrine changes underpin puberty, with hormonal surges of Luteinizing Hormone (LH) and Follicle-Stimulating Hormone (FSH) instigated by Gonadotropin-Releasing Hormone (GnRH)...
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The first thing a clinician sees is the skin, so the examination of the skin should be part of any thorough physical examination. Most skin disorders are relatively benign, but a few, including melanomas, can be fatal if untreated. A couple of the more noticeable disorders, albinism and vitiligo, affect the appearance of the skin and its accessory organs.
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Related Experiment Video

Updated: Jun 6, 2026

Determination of Reproductive Competence by Confirming Pubertal Onset and Performing a Fertility Assay in Mice and Rats
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A young boy with diffuse hyperpigmentation and delayed puberty.

Xian-Ling Wang1, Yi-Ming Mu, Jing-Tao Dou

  • 1Department of Endocrinology, Chinese PLA General Hospital, 28 Fu Xing Road, Beijing, China 100853.

European Journal of Pediatrics
|December 1, 2010
PubMed
Summary

This study details a rare case of adrenal insufficiency syndrome in an 18-year-old male, presenting with hyperpigmentation and lack of secondary sexual development. Key findings include elevated triglycerides and ACTH with low cortisone, alongside adrenal atrophy.

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Determination of Reproductive Competence by Confirming Pubertal Onset and Performing a Fertility Assay in Mice and Rats
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Published on: August 4, 2016

Area of Science:

  • Endocrinology
  • Genetics
  • Pediatric Medicine

Background:

  • Adrenal insufficiency syndrome (AIS) is a rare disorder affecting cortisol production.
  • Congenital adrenal hyperplasia (CAH) and autoimmune conditions are common causes of AIS.
  • This case highlights a potential genetic or developmental etiology for severe, early-onset AIS.

Observation:

  • An 18-year-old male presented with congenital hyperpigmentation and childhood-onset adrenal insufficiency.
  • Delayed puberty with absent secondary sexual characteristics was noted.
  • Markedly elevated serum triglycerides and plasma adrenocorticotropic hormone (ACTH) levels were observed.
  • Low plasma free cortisone levels and bilateral adrenal gland atrophy were confirmed via CT scan.

Findings:

  • The patient exhibited classic symptoms of adrenal insufficiency, including hyperpigmentation and hypocortisolism.
  • Biochemical analysis revealed severe hypertriglyceridemia and extremely high ACTH, suggesting a primary adrenal issue.
  • Imaging confirmed adrenal atrophy, consistent with non-response to ACTH stimulation.

Implications:

  • This case underscores the importance of comprehensive endocrine evaluation in patients with unexplained hyperpigmentation and adrenal insufficiency.
  • Understanding the underlying pathophysiology may lead to improved diagnostic approaches for rare forms of adrenal disorders.
  • Further research into genetic factors could elucidate novel pathways involved in adrenal development and function.