Isolated hypogonadotropic hypogonadism

Isolated hypogonadotropic hypogonadism (IHH), also called idiopathic or congenital hypogonadotropic hypogonadism (CHH), as well as isolated or congenital gonadotropin-releasing hormone deficiency (IGD), is a condition that results in a small subset of cases of hypogonadotropic hypogonadism (HH) due to deficiency in or insensitivity to gonadotropin-releasing hormone (GnRH) where the function and anatomy of the anterior pituitary is otherwise normal and secondary causes of HH are not present. It presents as hypogonadism (e.g., reduced or absent puberty (Ref.1), low libido, infertility, etc.) due to an impaired release of the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH), and a resultant lack of sex steroid and peptides production by the gonads (Ref. 2 and Ref 3). In addition, anosmia (loss of the sense of smell) occurs in instances of IHH that are the result of Kallmann syndrome, which is responsible for approximately 50% of all cases of the condition. Other causes of IHH include GnRH insensitivity, which is the second most common cause of IHH and is thought to be responsible for up to 20% of cases, and a minority (less than 5-10%) due to inactivating mutations in a variety of other genes which positively regulate GnRH secretion such as CHD7, KISS1R, and TACR3. The causes of approximately 25% of all cases of IHH are still unknown.^[1]

1- Young J. Approach to the male patient with congenital hypogonadotropic hypogonadism. J Clin Endocrinol Metab. 2012 Mar;97(3):707-18. doi: 10.1210/jc.2011-1664. PMID 22392951

2- Giton F, Trabado S, Maione L, Sarfati J, Le Bouc Y, Brailly-Tabard S, Fiet J, Young J. Sex steroids, precursors, and metabolite deficiencies in men with isolated hypogonadotropic hypogonadism and panhypopituitarism: a GCMS-based comparative study. J Clin Endocrinol Metab. 2015 Feb;100(2):E292-6. doi: 10.1210/jc.2014-2658. Epub 2014 Nov 13. PMID 25393641

3- Trabado S, Maione L, Bry-Gauillard H, Affres H, Salenave S, Sarfati J, Bouvattier C, Delemer B, Chanson P, Le Bouc Y, Brailly-Tabard S, Young J. Insulin-like peptide 3 (INSL3) in men with congenital hypogonadotropic hypogonadism/Kallmann syndrome and effects of different modalities of hormonal treatment: a single-center study of 281 patients. J Clin Endocrinol Metab. 2014 Feb;99(2):E268-75. doi: 10.1210/jc.2013-2288. Epub 2013 Nov 15. PMID 24243640

References

↑ "Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency Overview - GeneReviews™ - NCBI Bookshelf".

Diseases of the endocrine system (E00–E35, 240–259)

Pancreas/
glucose
metabolism

Hypofunction	Diabetes mellitus types: type 1 type 2 MODY 1 2 3 4 5 6 complications coma angiopathy ketoacidosis nephropathy neuropathy retinopathy cardiomyopathy insulin receptor (Rabson–Mendenhall syndrome) Insulin resistance

Hyperfunction	Hypoglycemia beta cell (Hyperinsulinism) G cell (Zollinger–Ellison syndrome)

Hypothalamic/
pituitary axes

Hypothalamus

gonadotropin
- Kallmann syndrome
- Adiposogenital dystrophy
CRH (Tertiary adrenal insufficiency)
vasopressin (Neurogenic diabetes insipidus)
general (Hypothalamic hamartoma)

Pituitary

Hyperpituitarism	anterior Acromegaly Hyperprolactinaemia Pituitary ACTH hypersecretion posterior (SIADH) general (Nelson's syndrome)

Hypopituitarism	anterior Kallmann syndrome Growth hormone deficiency Hypoprolactinemia ACTH deficiency/Secondary adrenal insufficiency GnRH insensitivity FSH insensitivity LH/hCG insensitivity posterior (Neurogenic diabetes insipidus) general Empty sella syndrome Pituitary apoplexy Sheehan's syndrome Lymphocytic hypophysitis

Thyroid

Hypothyroidism	Iodine deficiency Cretinism Congenital hypothyroidism Myxedema Euthyroid sick syndrome

Hyperthyroidism	Hyperthyroxinemia Thyroid hormone resistance Familial dysalbuminemic hyperthyroxinemia Hashitoxicosis Thyrotoxicosis factitia Graves' disease

Thyroiditis	Acute infectious Subacute De Quervain's Subacute lymphocytic Autoimmune/chronic Hashimoto's Postpartum Riedel's

Goitre	Endemic goitre Toxic nodular goitre Toxic multinodular goiter Thyroid nodule

Parathyroid

Hypoparathyroidism	Hypoparathyroidism Pseudohypoparathyroidism Pseudopseudohypoparathyroidism

Hyperparathyroidism	Primary Secondary Tertiary Osteitis fibrosa cystica

Adrenal

Hyperfunction	aldosterone: Hyperaldosteronism/Primary aldosteronism Conn syndrome Bartter syndrome Glucocorticoid remediable aldosteronism AME Liddle's syndrome 17α CAH cortisol: Cushing's syndrome (Pseudo-Cushing's syndrome) sex hormones: 21α CAH 11β CAH

Hypofunction/ Adrenal insufficiency (Addison's, WF)	aldosterone: Hypoaldosteronism 21α CAH 11β CAH cortisol: CAH Lipoid 3β 11β 17α 21α sex hormones: 17α CAH

Gonads

general: Hypogonadism (Delayed puberty)
Hypergonadism
- Precocious puberty
Hypoandrogenism
Hypoestrogenism
Hyperandrogenism
Hyperestrogenism
Postorgasmic illness syndrome

Height

Multiple

Autoimmune polyendocrine syndrome multiple
- APS1
- APS2
Carcinoid syndrome
Multiple endocrine neoplasia
- 1
- 2A
- 2B
Progeria
Woodhouse-Sakati syndrome

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Isolated hypogonadotropic hypogonadism

See also

References