U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hypogonadotropic hypogonadism 27 without anosmia(HH27)

MedGen UID:
1810165
Concept ID:
C5676921
Disease or Syndrome
Synonyms: HH27; HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA
 
Gene (location): NHLH2 (1p13.1)
 
Monarch Initiative: MONDO:0030684
OMIM®: 619755

Definition

Hypogonadotropic hypogonadism-27 without anosmia (HH27) is characterized by lack of pubertal development associated with onset of obesity in early adolescence (Topaloglu et al., 2022). Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).' [from OMIM]

Clinical features

From HPO
Obesity
MedGen UID:
18127
Concept ID:
C0028754
Disease or Syndrome
Accumulation of substantial excess body fat.
Absence of pubertal development
MedGen UID:
375841
Concept ID:
C1846228
Finding
Decreased circulating follicle stimulating hormone concentration
MedGen UID:
892977
Concept ID:
C4072889
Finding
A reduction of the circulating level of follicle-stimulating hormone (FSH).
Decreased circulating luteinizing hormone level
MedGen UID:
893008
Concept ID:
C4072890
Finding
A reduction in the circulating level of luteinizing hormone (LH).
Reduced response to gonadotropin-releasing hormone stimulation test
MedGen UID:
1694726
Concept ID:
C5209252
Finding
Failure of the gonadotropin-releasing hormone (GnRH) stimulation test to induce an appropriate increased in luteinizing hormone (LH), follicle-stimulating hormone (FSH) levels.

Professional guidelines

PubMed

Sippell WG, Hermanussen M, Partsch J
Ups J Med Sci 1984;89(1):61-5. doi: 10.3109/03009738409178464. PMID: 6377643

Recent clinical studies

Etiology

Bouilly J, Messina A, Papadakis G, Cassatella D, Xu C, Acierno JS, Tata B, Sykiotis G, Santini S, Sidis Y, Elowe-Gruau E, Phan-Hug F, Hauschild M, Bouloux PM, Quinton R, Lang-Muritano M, Favre L, Marino L, Giacobini P, Dwyer AA, Niederländer NJ, Pitteloud N
Hum Mol Genet 2018 Jan 15;27(2):359-372. doi: 10.1093/hmg/ddx408. PMID: 29202173
Iolascon G, Frizzi L, Bianco M, Gimigliano F, Palumbo V, Sinisi AM, Sinisi AA
Aging Clin Exp Res 2015 Oct;27 Suppl 1:S31-6. Epub 2015 Jul 23 doi: 10.1007/s40520-015-0421-5. PMID: 26201943
Raivio T, Falardeau J, Dwyer A, Quinton R, Hayes FJ, Hughes VA, Cole LW, Pearce SH, Lee H, Boepple P, Crowley WF Jr, Pitteloud N
N Engl J Med 2007 Aug 30;357(9):863-73. doi: 10.1056/NEJMoa066494. PMID: 17761590
Bhagavath B, Podolsky RH, Ozata M, Bolu E, Bick DP, Kulharya A, Sherins RJ, Layman LC
Fertil Steril 2006 Mar;85(3):706-13. doi: 10.1016/j.fertnstert.2005.08.044. PMID: 16500342
Bolu SE, Tasar M, Uçkaya G, Gönül E, Deniz F, Ozdemir IC
J Endocrinol Invest 2004 Dec;27(11):1029-33. doi: 10.1007/BF03345305. PMID: 15754734

Diagnosis

Berenbaum T, Ackerman K, Delhaye M
Eat Weight Disord 2022 Jun;27(5):1903-1906. Epub 2021 Dec 2 doi: 10.1007/s40519-021-01332-z. PMID: 34855141
Zhu Z, Han X, Li Y, Han C, Deng M, Zhang Y, Shen Q, Cao Y, Li Z, Wang X, Gu J, Liu X, Yang Y, Zhang Q, Hu F
Endocrine 2020 Jan;67(1):224-232. Epub 2019 Jul 19 doi: 10.1007/s12020-019-02010-y. PMID: 31325086
Kim JH, Seo GH, Kim GH, Huh J, Hwang IT, Jang JH, Yoo HW, Choi JH
Exp Clin Endocrinol Diabetes 2019 Sep;127(8):538-544. Epub 2018 Sep 14 doi: 10.1055/a-0681-6608. PMID: 30216942
Aoyama K, Mizuno H, Tanaka T, Togawa T, Negishi Y, Ohashi K, Hori I, Izawa M, Hamajima T, Saitoh S
J Pediatr Endocrinol Metab 2017 Oct 26;30(10):1111-1118. doi: 10.1515/jpem-2017-0035. PMID: 28915117
Iolascon G, Frizzi L, Bianco M, Gimigliano F, Palumbo V, Sinisi AM, Sinisi AA
Aging Clin Exp Res 2015 Oct;27 Suppl 1:S31-6. Epub 2015 Jul 23 doi: 10.1007/s40520-015-0421-5. PMID: 26201943

Therapy

Kim JH, Seo GH, Kim GH, Huh J, Hwang IT, Jang JH, Yoo HW, Choi JH
Exp Clin Endocrinol Diabetes 2019 Sep;127(8):538-544. Epub 2018 Sep 14 doi: 10.1055/a-0681-6608. PMID: 30216942
Iolascon G, Frizzi L, Bianco M, Gimigliano F, Palumbo V, Sinisi AM, Sinisi AA
Aging Clin Exp Res 2015 Oct;27 Suppl 1:S31-6. Epub 2015 Jul 23 doi: 10.1007/s40520-015-0421-5. PMID: 26201943
Raivio T, Falardeau J, Dwyer A, Quinton R, Hayes FJ, Hughes VA, Cole LW, Pearce SH, Lee H, Boepple P, Crowley WF Jr, Pitteloud N
N Engl J Med 2007 Aug 30;357(9):863-73. doi: 10.1056/NEJMoa066494. PMID: 17761590
Bolu SE, Tasar M, Uçkaya G, Gönül E, Deniz F, Ozdemir IC
J Endocrinol Invest 2004 Dec;27(11):1029-33. doi: 10.1007/BF03345305. PMID: 15754734
Sippell WG, Hermanussen M, Partsch J
Ups J Med Sci 1984;89(1):61-5. doi: 10.3109/03009738409178464. PMID: 6377643

Prognosis

Raivio T, Falardeau J, Dwyer A, Quinton R, Hayes FJ, Hughes VA, Cole LW, Pearce SH, Lee H, Boepple P, Crowley WF Jr, Pitteloud N
N Engl J Med 2007 Aug 30;357(9):863-73. doi: 10.1056/NEJMoa066494. PMID: 17761590
Bhagavath B, Podolsky RH, Ozata M, Bolu E, Bick DP, Kulharya A, Sherins RJ, Layman LC
Fertil Steril 2006 Mar;85(3):706-13. doi: 10.1016/j.fertnstert.2005.08.044. PMID: 16500342

Clinical prediction guides

Kałużna M, Budny B, Rabijewski M, Kałużny J, Dubiel A, Trofimiuk-Müldner M, Wrotkowska E, Hubalewska-Dydejczyk A, Ruchała M, Ziemnicka K
Genes (Basel) 2021 Jun 5;12(6) doi: 10.3390/genes12060868. PMID: 34198905Free PMC Article
Iolascon G, Frizzi L, Bianco M, Gimigliano F, Palumbo V, Sinisi AM, Sinisi AA
Aging Clin Exp Res 2015 Oct;27 Suppl 1:S31-6. Epub 2015 Jul 23 doi: 10.1007/s40520-015-0421-5. PMID: 26201943
Bhagavath B, Podolsky RH, Ozata M, Bolu E, Bick DP, Kulharya A, Sherins RJ, Layman LC
Fertil Steril 2006 Mar;85(3):706-13. doi: 10.1016/j.fertnstert.2005.08.044. PMID: 16500342
Bolu SE, Tasar M, Uçkaya G, Gönül E, Deniz F, Ozdemir IC
J Endocrinol Invest 2004 Dec;27(11):1029-33. doi: 10.1007/BF03345305. PMID: 15754734
Yapar Z, Kibar M, Sükan A, Paydaş S, Zeren H, Inal M
Ann Nucl Med 2002 Feb;16(1):61-5. doi: 10.1007/BF02995293. PMID: 11922210

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...