Kallmann syndrome

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Kallmann syndrome

Endocrine system

Adrenal gland disorders

Congenital adrenal hyperplasia

Primary adrenal insufficiency

Waterhouse-Friderichsen syndrome

Hyperaldosteronism

Adrenal cortical carcinoma

Cushing syndrome

Conn syndrome

Thyroid gland disorders

Thyroglossal duct cyst

Hyperthyroidism

Graves disease

Thyroid eye disease (NORD)

Toxic multinodular goiter

Thyroid storm

Hypothyroidism

Euthyroid sick syndrome

Hashimoto thyroiditis

Subacute granulomatous thyroiditis

Riedel thyroiditis

Postpartum thyroiditis

Thyroid cancer

Parathyroid gland disorders

Hyperparathyroidism

Hypoparathyroidism

Hypercalcemia

Hypocalcemia

Pancreatic disorders

Diabetes mellitus

Diabetic retinopathy

Diabetic nephropathy

Pituitary gland disorders

Hyperpituitarism

Pituitary adenoma

Hyperprolactinemia

Prolactinoma

Gigantism

Acromegaly

Hypopituitarism

Growth hormone deficiency

Pituitary apoplexy

Sheehan syndrome

Hypoprolactinemia

Constitutional growth delay

Diabetes insipidus

Syndrome of inappropriate antidiuretic hormone secretion (SIADH)

Gonadal dysfunction

Precocious puberty

Delayed puberty

Premature ovarian failure

Polycystic ovary syndrome

Androgen insensitivity syndrome

Kallmann syndrome

5-alpha-reductase deficiency

Polyglandular syndromes

Autoimmune polyglandular syndrome type 1 (NORD)

Endocrine tumors

Multiple endocrine neoplasia

Pancreatic neuroendocrine neoplasms

Zollinger-Ellison syndrome

Carcinoid syndrome

Pheochromocytoma

Neuroblastoma

Opsoclonus myoclonus syndrome (NORD)

Endocrine system pathology review

Adrenal insufficiency: Pathology review

Adrenal masses: Pathology review

Hyperthyroidism: Pathology review

Hypothyroidism: Pathology review

Thyroid nodules and thyroid cancer: Pathology review

Parathyroid disorders and calcium imbalance: Pathology review

Diabetes mellitus: Pathology review

Cushing syndrome and Cushing disease: Pathology review

Pituitary tumors: Pathology review

Hypopituitarism: Pathology review

Diabetes insipidus and SIADH: Pathology review

Multiple endocrine neoplasia: Pathology review

Neuroendocrine tumors of the gastrointestinal system: Pathology review

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Kallmann syndrome

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Kallmann syndrome

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Questions

USMLE® Step 1 style questions USMLE

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A 14-year-old boy presents to his family physician accompanied by his parent due to concerns regarding delayed puberty. The patient’s parent expresses concern about a lack of secondary male sex characteristics compared to his sibling of the same age. The patient has a reserved demeanor and answers questions with one-word answers. The patient gets mostly C’s and some D’s in school. He has been picked on since starting school for his inability to smell when other students intentionally break wind in his presence. On physical examination, height and weight are near the 60th percentile for his age. The patient has absent pubic hair and small testes. A deficiency of which of the following hormones is most directly responsible for this patient’s clinical presentation?  

External References

First Aid

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Follicle-stimulating hormone (FSH)

Kallmann syndrome p. NaN

Gonadotropin-releasing hormone (GnRH)

Kallmann syndrome p. NaN

Hypogonadism

Kallmann syndrome p. 663

Infertility

Kallmann syndrome p. 663

Kallmann syndrome p. 513, 663

Puberty

Kallmann syndrome and p. 663

External Links

Transcript

Contributors

Sam Gillespie, BSc

Kallmann syndrome is an endocrine disorder caused by a decrease in sex hormones, either testosterone in males or estrogen and progesterone in females. That decrease leads to a failure to start or complete puberty.

The syndrome is named after Dr. Franz Kallmann, the geneticist who first described it.

Normally, during fetal development there’s a region of the brain called the olfactory placode. Two groups of neurons emerge from that region.

The first group contains olfactory neurons that eventually help with sensing smells.

These neurons migrate down from the olfactory placode and get embedded in the cribriform plate, which is a bone plate that separates the nasal cavity from the brain, forming the olfactory bulb.

The second group contains neurons that release gonadotropin-releasing hormone.

And these neurons migrate through the cribriform plate, and settle in the hypothalamus.

The hypothalamic-pituitary-gonadal axis is a system of hormone signaling between the hypothalamus, pituitary gland, and gonads, either the testes or ovaries, to control sexual development and reproduction.

Gonadotropin-releasing hormone is released into the hypophyseal portal system, which is a network of capillaries connecting the hypothalamus to the hypophysis, or pituitary.

When gonadotropin-releasing hormone reaches the pituitary gland, it stimulates cells in the anterior pituitary, called gonadotrophs, to release gonadotropin hormones, luteinizing hormone and follicle-stimulating hormone into the blood.

Sources

  1. "Robbins Basic Pathology" Elsevier (2017)
  2. "Harrison's Principles of Internal Medicine, Twentieth Edition (Vol.1 & Vol.2)" McGraw-Hill Education / Medical (2018)
  3. "Pathophysiology of Disease: An Introduction to Clinical Medicine 8E" McGraw-Hill Education / Medical (2018)
  4. "CURRENT Medical Diagnosis and Treatment 2020" McGraw-Hill Education / Medical (2019)
  5. "Harrison's Endocrinology, 4E" McGraw-Hill Education / Medical (2016)
  6. "Clinical Genetic Testing for Kallmann Syndrome" The Journal of Clinical Endocrinology & Metabolism (2013)
  7. "Congenital Hypogonadotropic Hypogonadism and Kallmann Syndrome: Past, Present, and Future" Endocrinology and Metabolism (2015)
Elsevier

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