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Ichthyosis and male hypogonadism

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Ichthyosis, bilateral cryptorchidism, hypogenitalism and mental retardation
Monarch Initiative: MONDO:0010623
OMIM®: 308200
Orphanet: ORPHA431

Clinical features

From HPO
MedGen UID:
Concept ID:
An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.
MedGen UID:
Concept ID:
Disease or Syndrome
Simulataneous inflammation of multiple nerves.
MedGen UID:
Concept ID:
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Congenital ichthyosiform erythroderma
MedGen UID:
Concept ID:
Disease or Syndrome
An ichthyosiform abnormality of the skin with congenital onset.
Male hypogonadism
MedGen UID:
Concept ID:
Disease or Syndrome
Familial male hypogonadism is a highly heterogeneous category from which some disorders such as Reifenstein syndrome (312300), Kallmann syndrome (see 308700), isolated gonadotropin deficiency, and some other entities can be separated. The presence of an autosomal recessive form is suggested by the occurrence of parental consanguinity (Nowakowski and Lenz, 1961).
Hypogonadotropic hypogonadism
MedGen UID:
Concept ID:
Disease or Syndrome
Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones
Intellectual disability
MedGen UID:
Concept ID:
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Hyperchromic macrocytic anemia
MedGen UID:
Concept ID:
Disease or Syndrome
A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin.
Abnormality of metabolism/homeostasis
MedGen UID:
Concept ID:
Rod-cone dystrophy
MedGen UID:
Concept ID:
Disease or Syndrome
An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
Gonadotropin deficiency
MedGen UID:
Concept ID:
Disease or Syndrome
A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH).

Recent clinical studies


Gonçalves CI, Fonseca F, Borges T, Cunha F, Lemos MC
Hum Reprod 2017 Mar 1;32(3):704-711. doi: 10.1093/humrep/dew354. PMID: 28122887
Abdel-Naser MB, Zouboulis CC
Rev Endocr Metab Disord 2016 Sep;17(3):353-365. doi: 10.1007/s11154-016-9368-x. PMID: 27342409
Morice-Picard F, Cario-André M, Rezvani H, Lacombe D, Sarasin A, Taïeb A
Am J Med Genet A 2009 Sep;149A(9):2020-30. doi: 10.1002/ajmg.a.32902. PMID: 19681155
Arnold ML, Anton-Lamprecht I, Albrecht-Nebe H
Arch Dermatol Res 1992;284(4):198-208. doi: 10.1007/BF00375793. PMID: 1417065
Ballabio A, Parenti G, Tippett P, Mondello C, Di Maio S, Tenore A, Andria G
Hum Genet 1986 Mar;72(3):237-40. doi: 10.1007/BF00291885. PMID: 3007328


Xu H, Li Z, Wang T, Wang S, Liu J, Wang DW
Andrologia 2015 Dec;47(10):1160-5. Epub 2015 Jan 19 doi: 10.1111/and.12397. PMID: 25597551
Stoll C, Eyer D
Ann Genet 1999;42(1):45-50. PMID: 10214507
Cowen MA, Green M
Schizophr Res 1993 Mar;9(1):1-10. doi: 10.1016/0920-9964(93)90002-z. PMID: 8461265
Sunohara N, Sakuragawa N, Satoyoshi E, Tanae A, Shapiro LJ
Ann Neurol 1986 Feb;19(2):174-81. doi: 10.1002/ana.410190211. PMID: 3516063
Theile U
Humangenetik 1974 May 17;22(2):91-118. PMID: 4135782


Ballabio A, Carrozzo R, Parenti G, Gil A, Zollo M, Persico MG, Gillard E, Affara N, Yates J, Ferguson-Smith MA
Genomics 1989 Jan;4(1):36-40. doi: 10.1016/0888-7543(89)90311-x. PMID: 2644167

Clinical prediction guides

Kokalj-Vokac N, Marcun-Varda N, Zagorac A, Erjavec-Skerget A, Zagradisnik B, Todorovic M, Gregoric A
Eur J Pediatr 2004 Nov;163(11):658-63. Epub 2004 Aug 12 doi: 10.1007/s00431-004-1519-5. PMID: 15309625
Quinton R, Duke VM, Robertson A, Kirk JM, Matfin G, de Zoysa PA, Azcona C, MacColl GS, Jacobs HS, Conway GS, Besser M, Stanhope RG, Bouloux PM
Clin Endocrinol (Oxf) 2001 Aug;55(2):163-74. doi: 10.1046/j.1365-2265.2001.01277.x. PMID: 11531922
Maya-Núñez G, Cuevas-Covarrubias S, Zenteno JC, Ulloa-Aguirre A, Kofman-Alfaro S, Méndez JP
Clin Endocrinol (Oxf) 1998 Jun;48(6):713-8. doi: 10.1046/j.1365-2265.1998.00406.x. PMID: 9713559
Traupe H, Happle R
Eur J Pediatr 1983 Mar;140(1):19-21. doi: 10.1007/BF00661898. PMID: 6135610

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